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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1042522

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr17:7676154 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.33184 (83136/250534, GnomAD_exome)
G=0.38335 (48136/125568, TOPMED)
G=0.34004 (41119/120924, ExAC) (+ 7 more)
G=0.3793 (11878/31312, GnomAD)
G=0.457 (2289/5008, 1000G)
G=0.300 (1346/4480, Estonian)
G=0.250 (965/3854, ALSPAC)
G=0.245 (907/3708, TWINSUK)
C=0.50 (304/614, Vietnamese)
G=0.33 (198/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TP53 : Missense Variant
Publications
296 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 17 NC_000017.11:g.7676154G>C
GRCh38.p12 chr 17 NC_000017.11:g.7676154G>T
GRCh37.p13 chr 17 NC_000017.10:g.7579472G>C
GRCh37.p13 chr 17 NC_000017.10:g.7579472G>T
TP53 RefSeqGene (LRG_321) NG_017013.2:g.16397C>G
TP53 RefSeqGene (LRG_321) NG_017013.2:g.16397C>A
Gene: TP53, tumor protein p53 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TP53 transcript variant 5 NM_001126115.1:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 6 NM_001126116.1:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 7 NM_001126117.1:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 5 NM_001276697.2:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 6 NM_001276698.2:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 7 NM_001276699.2:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 1 NM_000546.5:c.215C>G P [CCC] > R [CGC] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_000537.3:p.Pro72Arg P (Pro) > R (Arg) Missense Variant
TP53 transcript variant 1 NM_000546.5:c.215C>A P [CCC] > H [CAC] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_000537.3:p.Pro72His P (Pro) > H (His) Missense Variant
TP53 transcript variant 2 NM_001126112.2:c.215C>G P [CCC] > R [CGC] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_001119584.1:p.Pro72Arg P (Pro) > R (Arg) Missense Variant
TP53 transcript variant 2 NM_001126112.2:c.215C>A P [CCC] > H [CAC] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_001119584.1:p.Pro72His P (Pro) > H (His) Missense Variant
TP53 transcript variant 4 NM_001126113.2:c.215C>G P [CCC] > R [CGC] Coding Sequence Variant
cellular tumor antigen p53 isoform c NP_001119585.1:p.Pro72Arg P (Pro) > R (Arg) Missense Variant
TP53 transcript variant 4 NM_001126113.2:c.215C>A P [CCC] > H [CAC] Coding Sequence Variant
cellular tumor antigen p53 isoform c NP_001119585.1:p.Pro72His P (Pro) > H (His) Missense Variant
TP53 transcript variant 3 NM_001126114.2:c.215C>G P [CCC] > R [CGC] Coding Sequence Variant
cellular tumor antigen p53 isoform b NP_001119586.1:p.Pro72Arg P (Pro) > R (Arg) Missense Variant
TP53 transcript variant 3 NM_001126114.2:c.215C>A P [CCC] > H [CAC] Coding Sequence Variant
cellular tumor antigen p53 isoform b NP_001119586.1:p.Pro72His P (Pro) > H (His) Missense Variant
TP53 transcript variant 8 NM_001126118.1:c.98C>G P [CCC] > R [CGC] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001119590.1:p.Pro33Arg P (Pro) > R (Arg) Missense Variant
TP53 transcript variant 8 NM_001126118.1:c.98C>A P [CCC] > H [CAC] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001119590.1:p.Pro33His P (Pro) > H (His) Missense Variant
TP53 transcript variant 4 NM_001276695.2:c.98C>G P [CCC] > R [CGC] Coding Sequence Variant
cellular tumor antigen p53 isoform h NP_001263624.1:p.Pro33Arg P (Pro) > R (Arg) Missense Variant
TP53 transcript variant 4 NM_001276695.2:c.98C>A P [CCC] > H [CAC] Coding Sequence Variant
cellular tumor antigen p53 isoform h NP_001263624.1:p.Pro33His P (Pro) > H (His) Missense Variant
TP53 transcript variant 1 NM_001276760.2:c.98C>G P [CCC] > R [CGC] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263689.1:p.Pro33Arg P (Pro) > R (Arg) Missense Variant
TP53 transcript variant 1 NM_001276760.2:c.98C>A P [CCC] > H [CAC] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263689.1:p.Pro33His P (Pro) > H (His) Missense Variant
TP53 transcript variant 2 NM_001276761.2:c.98C>G P [CCC] > R [CGC] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263690.1:p.Pro33Arg P (Pro) > R (Arg) Missense Variant
TP53 transcript variant 2 NM_001276761.2:c.98C>A P [CCC] > H [CAC] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263690.1:p.Pro33His P (Pro) > H (His) Missense Variant
TP53 transcript variant 3 NM_001276696.2:c.98C>G P [CCC] > R [CGC] Coding Sequence Variant
cellular tumor antigen p53 isoform i NP_001263625.1:p.Pro33Arg P (Pro) > R (Arg) Missense Variant
TP53 transcript variant 3 NM_001276696.2:c.98C>A P [CCC] > H [CAC] Coding Sequence Variant
cellular tumor antigen p53 isoform i NP_001263625.1:p.Pro33His P (Pro) > H (His) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G= (allele ID: 176504 )
ClinVar Accession Disease Names Clinical Significance
RCV000152112.1 not specified Benign
Allele: C (allele ID: 27390 )
ClinVar Accession Disease Names Clinical Significance
RCV000013144.5 CODON 72 POLYMORPHISM Benign
RCV000034639.2 not provided Benign
RCV000079202.9 not specified Benign
RCV000132165.3 Hereditary cancer-predisposing syndrome Benign
RCV000144668.3 Li-Fraumeni syndrome 1 Benign
RCV000211157.1 paclitaxel response - Efficacy, Toxicity/ADR Drug-Response
RCV000211212.1 cyclophosphamide response - Efficacy, Toxicity/ADR Drug-Response
RCV000211311.1 antineoplastic agents response - Efficacy, Toxicity/ADR Drug-Response
RCV000211338.1 fluorouracil response - Efficacy, Toxicity/ADR Drug-Response
RCV000211395.1 cisplatin response - Efficacy, Toxicity/ADR Drug-Response
RCV000300782.2 Li-Fraumeni syndrome Benign
Allele: T (allele ID: 185405 )
ClinVar Accession Disease Names Clinical Significance
RCV000164487.4 Hereditary cancer-predisposing syndrome Uncertain-Significance
RCV000227427.3 Li-Fraumeni syndrome Uncertain-Significance
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 250534 G=0.33184 C=0.66816
gnomAD - Exomes European Sub 135066 G=0.26349 C=0.73651
gnomAD - Exomes Asian Sub 48982 G=0.4736 C=0.5264
gnomAD - Exomes American Sub 34568 G=0.2855 C=0.7145
gnomAD - Exomes African Sub 15746 G=0.6201 C=0.3799
gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=0.2851 C=0.7149
gnomAD - Exomes Other Sub 6096 G=0.302 C=0.698
TopMed Global Study-wide 125568 G=0.38335 C=0.61665
ExAC Global Study-wide 120924 G=0.34004 C=0.65996
ExAC Europe Sub 73302 G=0.2659 C=0.7341
ExAC Asian Sub 25126 G=0.4702 C=0.5298
ExAC American Sub 11562 G=0.2885 C=0.7115
ExAC African Sub 10030 G=0.6158 C=0.3842
ExAC Other Sub 904 G=0.34 C=0.66
gnomAD - Genomes Global Study-wide 31312 G=0.3793 C=0.6207
gnomAD - Genomes European Sub 18856 G=0.2728 C=0.7272
gnomAD - Genomes African Sub 8686 G=0.616 C=0.384
gnomAD - Genomes East Asian Sub 1550 G=0.455 C=0.545
gnomAD - Genomes Other Sub 1082 G=0.311 C=0.689
gnomAD - Genomes American Sub 848 G=0.31 C=0.69
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.27 C=0.73
1000Genomes Global Study-wide 5008 G=0.457 C=0.543
1000Genomes African Sub 1322 G=0.669 C=0.331
1000Genomes East Asian Sub 1008 G=0.414 C=0.586
1000Genomes Europe Sub 1006 G=0.285 C=0.715
1000Genomes South Asian Sub 978 G=0.49 C=0.51
1000Genomes American Sub 694 G=0.32 C=0.68
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.300 C=0.700
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.250 C=0.750
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.245 C=0.755
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.50 C=0.50
Northern Sweden ACPOP Study-wide 600 G=0.33 C=0.67
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= C T Note
GRCh38.p12 chr 17 NC_000017.11:g.76...

NC_000017.11:g.7676154=

NC_000017.11:g.76...

NC_000017.11:g.7676154G>C

NC_000017.11:g.76...

NC_000017.11:g.7676154G>T

GRCh37.p13 chr 17 NC_000017.10:g.75...

NC_000017.10:g.7579472=

NC_000017.10:g.75...

NC_000017.10:g.7579472G>C

NC_000017.10:g.75...

NC_000017.10:g.7579472G>T

TP53 RefSeqGene (LRG_321) NG_017013.2:g.16397= NG_017013.2:g.163...

NG_017013.2:g.16397C>G

NG_017013.2:g.163...

NG_017013.2:g.16397C>A

TP53 transcript variant 1 NM_000546.5:c.215= NM_000546.5:c.215C>G NM_000546.5:c.215C>A
TP53 transcript variant 3 NM_001126114.2:c....

NM_001126114.2:c.215=

NM_001126114.2:c....

NM_001126114.2:c.215C>G

NM_001126114.2:c....

NM_001126114.2:c.215C>A

TP53 transcript variant 3 NM_001276696.2:c.98= NM_001276696.2:c....

NM_001276696.2:c.98C>G

NM_001276696.2:c....

NM_001276696.2:c.98C>A

TP53 transcript variant 3 NM_001276696.1:c.98= NM_001276696.1:c....

NM_001276696.1:c.98C>G

NM_001276696.1:c....

NM_001276696.1:c.98C>A

TP53 transcript variant 4 NM_001126113.2:c....

NM_001126113.2:c.215=

NM_001126113.2:c....

NM_001126113.2:c.215C>G

NM_001126113.2:c....

NM_001126113.2:c.215C>A

TP53 transcript variant 4 NM_001276695.2:c.98= NM_001276695.2:c....

NM_001276695.2:c.98C>G

NM_001276695.2:c....

NM_001276695.2:c.98C>A

TP53 transcript variant 4 NM_001276695.1:c.98= NM_001276695.1:c....

NM_001276695.1:c.98C>G

NM_001276695.1:c....

NM_001276695.1:c.98C>A

TP53 transcript variant 2 NM_001126112.2:c....

NM_001126112.2:c.215=

NM_001126112.2:c....

NM_001126112.2:c.215C>G

NM_001126112.2:c....

NM_001126112.2:c.215C>A

TP53 transcript variant 1 NM_001276760.2:c.98= NM_001276760.2:c....

NM_001276760.2:c.98C>G

NM_001276760.2:c....

NM_001276760.2:c.98C>A

TP53 transcript variant 1 NM_001276760.1:c.98= NM_001276760.1:c....

NM_001276760.1:c.98C>G

NM_001276760.1:c....

NM_001276760.1:c.98C>A

TP53 transcript variant 2 NM_001276761.2:c.98= NM_001276761.2:c....

NM_001276761.2:c.98C>G

NM_001276761.2:c....

NM_001276761.2:c.98C>A

TP53 transcript variant 2 NM_001276761.1:c.98= NM_001276761.1:c....

NM_001276761.1:c.98C>G

NM_001276761.1:c....

NM_001276761.1:c.98C>A

TP53 transcript variant 8 NM_001126118.1:c.98= NM_001126118.1:c....

NM_001126118.1:c.98C>G

NM_001126118.1:c....

NM_001126118.1:c.98C>A

cellular tumor antigen p53 isoform a NP_000537.3:p.Pro72= NP_000537.3:p.Pro...

NP_000537.3:p.Pro72Arg

NP_000537.3:p.Pro...

NP_000537.3:p.Pro72His

cellular tumor antigen p53 isoform b NP_001119586.1:p....

NP_001119586.1:p.Pro72=

NP_001119586.1:p....

NP_001119586.1:p.Pro72Arg

NP_001119586.1:p....

NP_001119586.1:p.Pro72His

cellular tumor antigen p53 isoform i NP_001263625.1:p....

NP_001263625.1:p.Pro33=

NP_001263625.1:p....

NP_001263625.1:p.Pro33Arg

NP_001263625.1:p....

NP_001263625.1:p.Pro33His

cellular tumor antigen p53 isoform c NP_001119585.1:p....

NP_001119585.1:p.Pro72=

NP_001119585.1:p....

NP_001119585.1:p.Pro72Arg

NP_001119585.1:p....

NP_001119585.1:p.Pro72His

cellular tumor antigen p53 isoform h NP_001263624.1:p....

NP_001263624.1:p.Pro33=

NP_001263624.1:p....

NP_001263624.1:p.Pro33Arg

NP_001263624.1:p....

NP_001263624.1:p.Pro33His

cellular tumor antigen p53 isoform a NP_001119584.1:p....

NP_001119584.1:p.Pro72=

NP_001119584.1:p....

NP_001119584.1:p.Pro72Arg

NP_001119584.1:p....

NP_001119584.1:p.Pro72His

cellular tumor antigen p53 isoform g NP_001263689.1:p....

NP_001263689.1:p.Pro33=

NP_001263689.1:p....

NP_001263689.1:p.Pro33Arg

NP_001263689.1:p....

NP_001263689.1:p.Pro33His

cellular tumor antigen p53 isoform g NP_001263690.1:p....

NP_001263690.1:p.Pro33=

NP_001263690.1:p....

NP_001263690.1:p.Pro33Arg

NP_001263690.1:p....

NP_001263690.1:p.Pro33His

cellular tumor antigen p53 isoform g NP_001119590.1:p....

NP_001119590.1:p.Pro33=

NP_001119590.1:p....

NP_001119590.1:p.Pro33Arg

NP_001119590.1:p....

NP_001119590.1:p.Pro33His

Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

129 SubSNP, 10 Frequency, 14 ClinVar submissions
No Submitter Submission ID Date (Build)
1 LEE ss1509829 Oct 05, 2000 (86)
2 HGBASE ss2419871 Nov 14, 2000 (89)
3 SC_JCM ss2463129 Nov 08, 2000 (89)
4 WICVAR ss3176059 Aug 15, 2001 (102)
5 LEE ss4390694 May 29, 2002 (106)
6 LEE ss4403906 May 29, 2002 (106)
7 SNP500CANCER ss5586947 Mar 31, 2003 (113)
8 WI_SSAHASNP ss6876177 Feb 20, 2003 (111)
9 SC_SNP ss14828256 Dec 05, 2003 (119)
10 CGAP-GAI ss16228600 Feb 27, 2004 (120)
11 CSHL-HAPMAP ss16760078 Feb 27, 2004 (120)
12 SSAHASNP ss21424619 Apr 05, 2004 (121)
13 MGC_GENOME_DIFF ss28497373 Sep 24, 2004 (126)
14 MGC_GENOME_DIFF ss28512049 Sep 24, 2004 (126)
15 EGP_SNPS ss32469466 Dec 02, 2004 (126)
16 ABI ss40756430 Mar 10, 2006 (126)
17 CANCER-GENOME ss48533626 Mar 10, 2006 (126)
18 EGP_SNPS ss66856877 Dec 01, 2006 (127)
19 SI_EXO ss71641730 May 18, 2007 (127)
20 ILLUMINA ss74901666 Dec 06, 2007 (129)
21 CGM_KYOTO ss76864481 Dec 06, 2007 (129)
22 HGSV ss77368561 Dec 06, 2007 (129)
23 PHARMGKB_CREATE ss84172835 Dec 15, 2007 (130)
24 PHARMGKB_CREATE ss84172846 Dec 15, 2007 (130)
25 PHARMGKB_CREATE ss84172869 Dec 15, 2007 (130)
26 PHARMGKB_CREATE ss84173063 Dec 15, 2007 (130)
27 BCMHGSC_JDW ss90524417 Mar 24, 2008 (129)
28 HUMANGENOME_JCVI ss96578357 Feb 06, 2009 (130)
29 KFSHRC_RADBIO ss105111344 Feb 06, 2009 (130)
30 1000GENOMES ss113260832 Jan 25, 2009 (130)
31 ENSEMBL ss132645907 Dec 01, 2009 (131)
32 ENSEMBL ss136962647 Dec 01, 2009 (131)
33 SEATTLESEQ ss159734466 Dec 01, 2009 (131)
34 ILLUMINA ss159892412 Dec 01, 2009 (131)
35 COMPLETE_GENOMICS ss167755102 Jul 04, 2010 (132)
36 COMPLETE_GENOMICS ss169011665 Jul 04, 2010 (132)
37 ILLUMINA ss170062384 Jul 04, 2010 (132)
38 COMPLETE_GENOMICS ss171135553 Jul 04, 2010 (132)
39 BCM-HGSC-SUB ss208005019 Jul 04, 2010 (132)
40 1000GENOMES ss210907281 Jul 14, 2010 (132)
41 1000GENOMES ss227449846 Jul 14, 2010 (132)
42 1000GENOMES ss237173876 Jul 15, 2010 (132)
43 1000GENOMES ss243485869 Jul 15, 2010 (132)
44 ILLUMINA ss244268863 Jul 04, 2010 (132)
45 BL ss255474801 May 09, 2011 (134)
46 OMIM-CURATED-RECORDS ss275513802 Nov 22, 2010 (133)
47 OMICIA ss275516321 Aug 29, 2012 (137)
48 GMI ss282682486 May 04, 2012 (137)
49 PJP ss292010371 May 09, 2011 (134)
50 NHLBI-ESP ss342443172 May 09, 2011 (134)
51 ILLUMINA ss410886683 Sep 17, 2011 (135)
52 ILLUMINA ss479263677 May 04, 2012 (137)
53 ILLUMINA ss479266613 May 04, 2012 (137)
54 ILLUMINA ss479635493 Sep 08, 2015 (146)
55 ILLUMINA ss484432514 May 04, 2012 (137)
56 1000GENOMES ss491115344 May 04, 2012 (137)
57 EXOME_CHIP ss491516529 May 04, 2012 (137)
58 CLINSEQ_SNP ss491729176 May 04, 2012 (137)
59 ILLUMINA ss536603957 Sep 08, 2015 (146)
60 TISHKOFF ss565152392 Apr 25, 2013 (138)
61 SSMP ss660940297 Apr 25, 2013 (138)
62 ILLUMINA ss778654660 Sep 08, 2015 (146)
63 ILLUMINA ss782662723 Sep 08, 2015 (146)
64 ILLUMINA ss783631622 Sep 08, 2015 (146)
65 ILLUMINA ss831913250 Sep 08, 2015 (146)
66 ILLUMINA ss834112538 Sep 08, 2015 (146)
67 EVA-GONL ss992899216 Aug 21, 2014 (142)
68 JMKIDD_LAB ss1067567548 Aug 21, 2014 (142)
69 1000GENOMES ss1357813388 Aug 21, 2014 (142)
70 DDI ss1427970283 Apr 01, 2015 (144)
71 EVA_GENOME_DK ss1578079123 Apr 01, 2015 (144)
72 EVA_FINRISK ss1584103859 Apr 01, 2015 (144)
73 EVA_UK10K_ALSPAC ss1635240398 Apr 01, 2015 (144)
74 EVA_UK10K_TWINSUK ss1678234431 Apr 01, 2015 (144)
75 EVA_EXAC ss1692579901 Apr 01, 2015 (144)
76 EVA_MGP ss1711447010 Apr 01, 2015 (144)
77 EVA_SVP ss1713568240 Apr 01, 2015 (144)
78 CLINVAR ss1751110392 May 21, 2015 (144)
79 ILLUMINA ss1752241679 Sep 08, 2015 (146)
80 HAMMER_LAB ss1808692611 Sep 08, 2015 (146)
81 WEILL_CORNELL_DGM ss1936345976 Feb 12, 2016 (147)
82 ILLUMINA ss1946427495 Feb 12, 2016 (147)
83 GENOMED ss1966658571 Feb 12, 2016 (147)
84 JJLAB ss2028961088 Sep 14, 2016 (149)
85 ILLUMINA ss2094800802 Dec 20, 2016 (150)
86 ILLUMINA ss2095071150 Dec 20, 2016 (150)
87 USC_VALOUEV ss2157408828 Dec 20, 2016 (150)
88 HUMAN_LONGEVITY ss2215319666 Dec 20, 2016 (150)
89 TOPMED ss2380167965 Dec 20, 2016 (150)
90 SYSTEMSBIOZJU ss2628972669 Nov 08, 2017 (151)
91 ILLUMINA ss2633372555 Nov 08, 2017 (151)
92 GRF ss2701951520 Nov 08, 2017 (151)
93 GNOMAD ss2742410547 Nov 08, 2017 (151)
94 GNOMAD ss2749679886 Nov 08, 2017 (151)
95 GNOMAD ss2947436379 Nov 08, 2017 (151)
96 AFFY ss2985084752 Nov 08, 2017 (151)
97 AFFY ss2985722821 Nov 08, 2017 (151)
98 SWEGEN ss3015157839 Nov 08, 2017 (151)
99 ILLUMINA ss3021752319 Nov 08, 2017 (151)
100 EVA_SAMSUNG_MC ss3023070243 Nov 08, 2017 (151)
101 BIOINF_KMB_FNS_UNIBA ss3028299707 Nov 08, 2017 (151)
102 TOPMED ss3256688358 Nov 08, 2017 (151)
103 CSHL ss3351641711 Nov 08, 2017 (151)
104 ILLUMINA ss3627620219 Oct 12, 2018 (152)
105 ILLUMINA ss3631355146 Oct 12, 2018 (152)
106 ILLUMINA ss3633134504 Oct 12, 2018 (152)
107 ILLUMINA ss3633841584 Oct 12, 2018 (152)
108 ILLUMINA ss3634663355 Oct 12, 2018 (152)
109 ILLUMINA ss3636353773 Oct 12, 2018 (152)
110 ILLUMINA ss3637281050 Oct 12, 2018 (152)
111 ILLUMINA ss3638148196 Oct 12, 2018 (152)
112 ILLUMINA ss3640370674 Oct 12, 2018 (152)
113 ILLUMINA ss3643127588 Oct 12, 2018 (152)
114 OMUKHERJEE_ADBS ss3646503356 Oct 12, 2018 (152)
115 URBANLAB ss3650598904 Oct 12, 2018 (152)
116 ILLUMINA ss3652165134 Oct 12, 2018 (152)
117 ILLUMINA ss3653857049 Oct 12, 2018 (152)
118 EGCUT_WGS ss3682123038 Jul 13, 2019 (153)
119 EVA_DECODE ss3700039781 Jul 13, 2019 (153)
120 ILLUMINA ss3725600063 Jul 13, 2019 (153)
121 ACPOP ss3741852661 Jul 13, 2019 (153)
122 ILLUMINA ss3744147021 Jul 13, 2019 (153)
123 ILLUMINA ss3744963699 Jul 13, 2019 (153)
124 EVA ss3754421771 Jul 13, 2019 (153)
125 ILLUMINA ss3772461747 Jul 13, 2019 (153)
126 PACBIO ss3788143256 Jul 13, 2019 (153)
127 PACBIO ss3793112555 Jul 13, 2019 (153)
128 PACBIO ss3797998185 Jul 13, 2019 (153)
129 KHV_HUMAN_GENOMES ss3819691776 Jul 13, 2019 (153)
130 1000Genomes NC_000017.10 - 7579472 Oct 12, 2018 (152)
131 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 7579472 Oct 12, 2018 (152)
132 Genetic variation in the Estonian population NC_000017.10 - 7579472 Oct 12, 2018 (152)
133 ExAC NC_000017.10 - 7579472 Oct 12, 2018 (152)
134 gnomAD - Genomes NC_000017.10 - 7579472 Jul 13, 2019 (153)
135 gnomAD - Exomes NC_000017.10 - 7579472 Jul 13, 2019 (153)
136 Northern Sweden NC_000017.10 - 7579472 Jul 13, 2019 (153)
137 TopMed NC_000017.11 - 7676154 Oct 12, 2018 (152)
138 UK 10K study - Twins NC_000017.10 - 7579472 Oct 12, 2018 (152)
139 A Vietnamese Genetic Variation Database NC_000017.10 - 7579472 Jul 13, 2019 (153)
140 ClinVar RCV000013144.5 Jul 13, 2019 (153)
141 ClinVar RCV000034639.2 Jul 13, 2019 (153)
142 ClinVar RCV000079202.9 Jul 13, 2019 (153)
143 ClinVar RCV000132165.3 Oct 12, 2018 (152)
144 ClinVar RCV000144668.3 Oct 12, 2018 (152)
145 ClinVar RCV000152112.1 Oct 12, 2018 (152)
146 ClinVar RCV000164487.4 Jul 13, 2019 (153)
147 ClinVar RCV000211157.1 Oct 12, 2018 (152)
148 ClinVar RCV000211212.1 Oct 12, 2018 (152)
149 ClinVar RCV000211311.1 Oct 12, 2018 (152)
150 ClinVar RCV000211338.1 Oct 12, 2018 (152)
151 ClinVar RCV000211395.1 Oct 12, 2018 (152)
152 ClinVar RCV000227427.3 Jul 13, 2019 (153)
153 ClinVar RCV000300782.2 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs2229076 Jan 04, 2002 (102)
rs3174747 Jul 03, 2002 (106)
rs4134781 Nov 14, 2002 (109)
rs17844988 Mar 10, 2006 (126)
rs17857747 Mar 10, 2006 (126)
rs17882155 Mar 10, 2006 (126)
rs60388830 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77368561, ss90524417, ss113260832, ss159892412, ss167755102, ss169011665, ss171135553, ss208005019, ss210907281, ss244268863, ss255474801, ss282682486, ss292010371, ss479263677, ss491729176, ss1713568240, ss3643127588 NC_000017.9:7520196:G:C NC_000017.11:7676153:G:C (self)
71024053, 39391353, 27861286, 3007675, 193812242, 11708619, 15137526, 39391353, 8726164, ss227449846, ss237173876, ss243485869, ss342443172, ss479266613, ss479635493, ss484432514, ss491115344, ss491516529, ss536603957, ss565152392, ss660940297, ss778654660, ss782662723, ss783631622, ss831913250, ss834112538, ss992899216, ss1067567548, ss1357813388, ss1427970283, ss1578079123, ss1584103859, ss1635240398, ss1678234431, ss1692579901, ss1711447010, ss1752241679, ss1808692611, ss1936345976, ss1946427495, ss1966658571, ss2028961088, ss2094800802, ss2095071150, ss2157408828, ss2380167965, ss2628972669, ss2633372555, ss2701951520, ss2742410547, ss2749679886, ss2947436379, ss2985084752, ss2985722821, ss3015157839, ss3021752319, ss3023070243, ss3351641711, ss3627620219, ss3631355146, ss3633134504, ss3633841584, ss3634663355, ss3636353773, ss3637281050, ss3638148196, ss3640370674, ss3646503356, ss3652165134, ss3653857049, ss3682123038, ss3741852661, ss3744147021, ss3744963699, ss3754421771, ss3772461747, ss3788143256, ss3793112555, ss3797998185 NC_000017.10:7579471:G:C NC_000017.11:7676153:G:C (self)
RCV000013144.5, RCV000034639.2, RCV000079202.9, RCV000132165.3, RCV000144668.3, RCV000211157.1, RCV000211212.1, RCV000211311.1, RCV000211338.1, RCV000211395.1, RCV000300782.2, 152406270, ss275513802, ss275516321, ss2215319666, ss3028299707, ss3256688358, ss3650598904, ss3700039781, ss3725600063, ss3819691776 NC_000017.11:7676153:G:C NC_000017.11:7676153:G:C (self)
ss14828256, ss16760078, ss21424619 NT_010718.14:6420477:G:C NC_000017.11:7676153:G:C (self)
ss1509829, ss2419871, ss2463129, ss3176059, ss4390694, ss4403906, ss5586947, ss6876177, ss16228600, ss28497373, ss28512049, ss32469466, ss40756430, ss48533626, ss66856877, ss71641730, ss74901666, ss76864481, ss84172835, ss84172846, ss84172869, ss84173063, ss96578357, ss105111344, ss132645907, ss136962647, ss159734466, ss170062384, ss410886683 NT_010718.16:7182845:G:C NC_000017.11:7676153:G:C (self)
RCV000164487.4, RCV000227427.3, ss1751110392 NC_000017.11:7676153:G:T NC_000017.11:7676153:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

296 citations for rs1042522
PMID Title Author Year Journal
1975675 Codon 72 polymorphism of the TP53 gene. Ara S et al. 1990 Nucleic acids research
1999338 Characterization of a frequent polymorphism in the coding sequence of the Tp53 gene in colonic cancer patients and a control population. Olschwang S et al. 1991 Human genetics
8242752 WAF1, a potential mediator of p53 tumor suppression. el-Deiry WS et al. 1993 Cell
9607760 Role of a p53 polymorphism in the development of human papillomavirus-associated cancer. Storey A et al. 1998 Nature
9891044 Two polymorphic variants of wild-type p53 differ biochemically and biologically. Thomas M et al. 1999 Molecular and cellular biology
10802655 A common polymorphism acts as an intragenic modifier of mutant p53 behaviour. Marin MC et al. 2000 Nature genetics
11403041 Role of TP53 P72R polymorphism in human papillomavirus associated premalignant laryngeal neoplasm. Aaltonen LM et al. 2001 Journal of medical genetics
12567188 The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Dumont P et al. 2003 Nature genetics
15355915 p53 polymorphism and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population. Jones JS et al. 2004 Clinical cancer research
15450681 Tumor suppressor gene TP53 is genetically associated with schizophrenia in the Chinese population. Yang Y et al. 2004 Neuroscience letters
15564288 Polymorphisms in XPD and TP53 and mutation in human lung cancer. Mechanic LE et al. 2005 Carcinogenesis
16199549 The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC). Krüger S et al. 2005 Journal of medical genetics
16258005 Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. Bougeard G et al. 2006 Journal of medical genetics
16287156 Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer. Zhang X et al. 2006 Human mutation
16465622 Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. Wu X et al. 2006 American journal of human genetics
16857995 Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes. Hill DA et al. 2006 Blood
16964264 iASPP preferentially binds p53 proline-rich region and modulates apoptotic function of codon 72-polymorphic p53. Bergamaschi D et al. 2006 Nature genetics
17096406 Germ-line genetic variation of TP53 in osteosarcoma. Savage SA et al. 2007 Pediatric blood & cancer
17301252 Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors. Mechanic LE et al. 2007 Cancer epidemiology, biomarkers & prevention
17428325 Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk. Baynes C et al. 2007 Breast cancer research
17449902 Genetic variation in TP53 and risk of breast cancer in a population-based case control study. Sprague BL et al. 2007 Carcinogenesis
17535973 Tumor suppressor p53 Arg72Pro polymorphism and longevity, cancer survival, and risk of cancer in the general population. Ørsted DD et al. 2007 The Journal of experimental medicine
17537232 Association of TP53 codon 72 polymorphism and the outcome of adjuvant therapy in breast cancer patients. Toyama T et al. 2007 Breast cancer research
17599946 Association of the TP53 codon 72 polymorphism with colorectal cancer in a Chinese population. Zhu ZZ et al. 2007 Japanese journal of clinical oncology
17624591 Genetic variation of TP53, polycyclic aromatic hydrocarbon-related exposures, and breast cancer risk among women on Long Island, New York. Gaudet MM et al. 2008 Breast cancer research and treatment
17638920 Interaction of P53 Arg72Pro and MDM2 T309G polymorphisms and their associations with risk of gastric cardia cancer. Yang M et al. 2007 Carcinogenesis
18191955 Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. Zhu Y et al. 2008 Mutation research
18298806 Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years. Rosenberger A et al. 2008 BMC cancer
18357466 Prognostic role of p53 codon 72 polymorphism in gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy. Huang ZH et al. 2008 Journal of cancer research and clinical oncology
18433491 MDM2 gene SNP309 T/G and p53 gene SNP72 G/C do not influence diffuse large B-cell non-Hodgkin lymphoma onset or survival in central European Caucasians. Bittenbring J et al. 2008 BMC cancer
18547414 Genotyping panel for assessing response to cancer chemotherapy. Dai Z et al. 2008 BMC medical genomics
18640487 Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation. Israni AK et al. 2008 American journal of kidney diseases
18678618 Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes. Gaulton KJ et al. 2008 Diabetes
18715757 Genetic associations with schizophrenia: meta-analyses of 12 candidate genes. Shi J et al. 2008 Schizophrenia research
18798306 Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population. Pangilinan F et al. 2008 American journal of medical genetics. Part A
18805939 Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Tempfer CB et al. 2009 Human reproduction update
18820009 Possible difference in frequencies of genetic polymorphisms of estrogen receptor alpha, estrogen metabolism and P53 genes between estrogen receptor-positive and -negative breast cancers. Hamaguchi M et al. 2008 Japanese journal of clinical oncology
18830263 Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma. Wang SS et al. 2009 Leukemia
18854777 Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy. Wu X et al. 2008 Pharmacogenetics and genomics
18978339 Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity. Lan Q et al. 2009 Carcinogenesis
18990748 International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways. Hung RJ et al. 2008 Cancer epidemiology, biomarkers & prevention
19052714 TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin. Kim JG et al. 2009 Cancer chemotherapy and pharmacology
19193430 Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer. Ashton KA et al. 2009 Gynecologic oncology
19224585 Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic. Polakova V et al. 2009 Human mutation
19237173 Bcl2 -938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy. Hirata H et al. 2009 The Journal of urology
19276375 Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer. Schildkraut JM et al. 2009 Cancer research
19286843 Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma. Akulevich NM et al. 2009 Endocrine-related cancer
19302219 p53 Arg72Pro, MDM2 T309G and CCND1 G870A polymorphisms are not associated with susceptibility to esophageal adenocarcinoma. Liu G et al. 2010 Diseases of the esophagus
19367277 Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer. Chang-Claude J et al. 2009 British journal of cancer
19423538 Common genetic variation in TP53 and risk of human papillomavirus persistence and progression to CIN3/cancer revisited. Koshiol J et al. 2009 Cancer epidemiology, biomarkers & prevention
19426493 A case-control study on the combined effects of p53 and p73 polymorphisms on head and neck cancer risk in an Italian population. Gallì P et al. 2009 BMC cancer
19442035 Pharmacogenomics of platinum-based chemotherapy in NSCLC. Hildebrandt MA et al. 2009 Expert opinion on drug metabolism & toxicology
19470478 Single-nucleotide polymorphisms in the p53 pathway regulate fertility in humans. Kang HJ et al. 2009 Proceedings of the National Academy of Sciences of the United States of America
19471604 Lack of association between p53 gene polymorphisms and primary open angle glaucoma in the Japanese population. Mabuchi F et al. 2009 Molecular vision
19482343 Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: a case-control analysis. Zhou X et al. 2009 Gynecologic oncology
19505915 Association of genetic polymorphisms, mRNA expression of p53 and p21 with chronic benzene poisoning in a chinese occupational population. Sun P et al. 2009 Cancer epidemiology, biomarkers & prevention
19521721 Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms. Hancox RJ et al. 2009 Human genetics
19542078 TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis. Marcel V et al. 2009 Journal of medical genetics
19625214 TP53 codon 72 polymorphism and cervical cancer: a pooled analysis of individual data from 49 studies. Klug SJ et al. 2009 The Lancet. Oncology
19657586 Association study between P53 and P73 gene polymorphisms and the sporadic late-onset form of Alzheimer's disease. Scacchi R et al. 2009 Journal of neural transmission (Vienna, Austria
19707196 The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Sinilnikova OM et al. 2009 British journal of cancer
19750108 Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect. Imboden M et al. 2009 Environmental health perspectives
19784392 Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism. Daugherty CL et al. 2009 Molecular vision
19786980 Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients. Khrunin AV et al. 2010 The pharmacogenomics journal
19822020 Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study. Zhu F et al. 2009 BMC gastroenterology
19826048 Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. Akbari MR et al. 2009 Cancer research
19834951 The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube. Xian W et al. 2010 The Journal of pathology
19837266 TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility. Do TN et al. 2009 Cancer genetics and cytogenetics
19911060 Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint. Doi N et al. 2009 PloS one
20003265 Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast. Maia AT et al. 2009 Breast cancer research
20100738 Prevalence and persistence of chromosomal damage and susceptible genotypes of metabolic and DNA repair genes in Chinese vinyl chloride-exposed workers. Ji F et al. 2010 Carcinogenesis
20110284 Genotype and haplotype analysis of TP53 gene and the risk of pancreatic cancer: an association study in the Czech Republic. Naccarati A et al. 2010 Carcinogenesis
20127253 The role of TP53 and p21 gene polymorphisms in breast cancer biology in a well specified and characterized German cohort. Ebner F et al. 2010 Journal of cancer research and clinical oncology
20200430 TP53, MDM2, NQO1, and susceptibility to cervical cancer. Hu X et al. 2010 Cancer epidemiology, biomarkers & prevention
20232390 Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia. Shi JY et al. 2011 International journal of cancer
20357201 Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma. Fan BJ et al. 2010 Investigative ophthalmology & visual science
20436704 TP53 mutations in Korean patients with non-small cell lung cancer. Lee EB et al. 2010 Journal of Korean medical science
20452958 Single-nucleotide polymorphisms in the p53 signaling pathway. Grochola LF et al. 2010 Cold Spring Harbor perspectives in biology
20455025 Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. Robertson LB et al. 2010 Familial cancer
20512840 Association between TP53 gene ARG72PRO polymorphism and chromosome aberrations in human cancers. Litviakov NV et al. 2010 Molecular carcinogenesis
20520810 Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations. Fang S et al. 2010 PloS one
20587610 Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. Ucisik-Akkaya E et al. 2010 Molecular human reproduction
20593380 p53 Pro72Arg polymorphism and prostate cancer in men of African descent. Ricks-Santi L et al. 2010 The Prostate
20638924 Distribution of TYMS, MTHFR, p53 and MDR1 gene polymorphisms in patients with breast cancer treated with neoadjuvant chemotherapy. Henríquez-Hernández LA et al. 2010 Cancer epidemiology
20847277 Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification. Baak-Pablo R et al. 2010 The Journal of molecular diagnostics
20855462 Single-nucleotide polymorphisms in p53 pathway and aggressiveness of prostate cancer in a Caucasian population. Sun T et al. 2010 Clinical cancer research
20935061 A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck. Huang YJ et al. 2010 Carcinogenesis
21029772 Genomic DNA extraction from whole blood stored from 15- to 30-years at -20 °C by rapid phenol-chloroform protocol: a useful tool for genetic epidemiology studies. Di Pietro F et al. 2011 Molecular and cellular probes
21115003 TP53 polymorphisms in gliomas from Indian patients: Study of codon 72 genotype, rs1642785, rs1800370 and 16 base pair insertion in intron-3. Jha P et al. 2011 Experimental and molecular pathology
21146886 Association between polymorphisms in RAPGEF1, TP53, NRF1 and type 2 diabetes in Chinese Han population. Qu L et al. 2011 Diabetes research and clinical practice
21252575 TP53 codon 72 polymorphism is associated with coronary artery disease in Chilean subjects. Caamaño J et al. 2011 Medical principles and practice
21283750 Studies of the association of Arg72Pro of tumor suppressor protein p53 with type 2 diabetes in a combined analysis of 55,521 Europeans. Burgdorf KS et al. 2011 PloS one
21402718 Regulation of female reproduction by p53 and its family members. Feng Z et al. 2011 FASEB journal
21437228 Using epidemiology and genomics to understand osteosarcoma etiology. Savage SA et al. 2011 Sarcoma
21514219 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Zhang B et al. 2011 The Lancet. Oncology
21533266 Data integration workflow for search of disease driving genes and genetic variants. Karinen S et al. 2011 PloS one
21589938 Targeted assembly of short sequence reads. Warren RL et al. 2011 PloS one
21619694 MDM2 SNP309, gene-gene interaction, and tumor susceptibility: an updated meta-analysis. Wan Y et al. 2011 BMC cancer
21656578 Effects of MDM2 promoter polymorphisms and p53 codon 72 polymorphism on risk and age at onset of squamous cell carcinoma of the head and neck. Yu H et al. 2011 Molecular carcinogenesis
21672450 Is there a biological plausability for p53 codon 72 polymorphism influence on cervical cancer development? Sousa H et al. 2011 Acta medica portuguesa
21708280 Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. Srivastava K et al. 2011 Mutation research
21741128 TP53 Arg72Pro polymorphism in Turkish patients with sporadic amyotrophic lateral sclerosis. Ergul E et al. 2011 Neurobiology of aging
21779510 Regulation of Fertility by the p53 Family Members. Hu W et al. 2011 Genes & cancer
21790896 Genetic and environmental predictors, endogenous hormones and growth factors, and risk of estrogen receptor-positive breast cancer in Japanese women. Yoshimoto N et al. 2011 Cancer science
21810023 Coordination of TP53 abnormalities in breast cancer: data from analysis of TP53 polymorphisms, loss of heterozygosity, methylation, and mutations. Denisov EV et al. 2011 Genetic testing and molecular biomarkers
21838531 Crosstalk between the FGFR2 and TP53 genes in breast cancer: data from an association study and epistatic interaction analysis. Cherdyntseva NV et al. 2012 DNA and cell biology
21841506 Combined effect of genetic polymorphisms in P53, P73, and MDM2 on non-small cell lung cancer survival. Liu L et al. 2011 Journal of thoracic oncology
21877955 Involvement of single-nucleotide polymorphisms in predisposition to head and neck cancer in Saudi Arabia. Al-Hadyan KS et al. 2012 Genetic testing and molecular biomarkers
21897271 Analysis of 4 single-nucleotide polymorphisms in relation to cervical dysplasia and cancer development using a high-throughput ligation-detection reaction procedure. von Keyserling H et al. 2011 International journal of gynecological cancer
21931130 WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions. Blanco-Marchite C et al. 2011 Investigative ophthalmology & visual science
21946351 A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Stacey SN et al. 2011 Nature genetics
22076708 Validation of genetic sequence variants as prognostic factors in early-stage head and neck squamous cell cancer survival. Azad AK et al. 2012 Clinical cancer research
22178231 Polymorphisms of TP53 are markers of bladder cancer vulnerability and prognosis. Lin HY et al. 2013 Urologic oncology
22188361 Pharmacogenomics of cisplatin-based chemotherapy in ovarian cancer patients of different ethnic origins. Khrunin A et al. 2012 Pharmacogenomics
22189267 Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time. Reiling E et al. 2012 European journal of human genetics
22194650 Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis. Rose R et al. 2011 Molecular vision
22215955 Polymorphisms associated with the risk of lung cancer in a healthy Mexican Mestizo population: Application of the additive model for cancer. Pérez-Morales R et al. 2011 Genetics and molecular biology
22251423 NAMPT (visfatin) and AKT1 genetic variants associate with myocardial infarction. Leander K et al. 2012 Clinica chimica acta; international journal of clinical chemistry
22294769 Mutations and polymorphisms in TP53 gene--an overview on the role in colorectal cancer. Naccarati A et al. 2012 Mutagenesis
22300735 Genetic predisposition factors and nasopharyngeal carcinoma risk: a review of epidemiological association studies, 2000-2011: Rosetta Stone for NPC: genetics, viral infection, and other environmental factors. Hildesheim A et al. 2012 Seminars in cancer biology
22336942 Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma. Cotignola J et al. 2012 The Journal of investigative dermatology
22417303 Infrequent p53 gene mutation but UV gradient-like p53 protein positivity in keloids. Heitzer E et al. 2012 Experimental dermatology
22655231 Sequence Variants and the Risk of Head and Neck Cancer: Pooled Analysis in the INHANCE Consortium. Chuang SC et al. 2011 Frontiers in oncology
22703879 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Johnston JJ et al. 2012 American journal of human genetics
22729912 Individual and combined effects of MDM2 SNP309 and TP53 Arg72Pro on breast cancer risk: an updated meta-analysis. Cheng H et al. 2012 Molecular biology reports
22742565 Germline prognostic markers for urinary bladder cancer: obstacles and opportunities. Chang DW et al. 2012 Urologic oncology
22744426 Polymorphisms in TP53 and MDM2 contribute to higher risk of colorectal cancer in Chinese population: a hospital-based, case-control study. Zhang Y et al. 2012 Molecular biology reports
22773013 Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population. Huang C et al. 2012 Asian journal of andrology
22829934 Assessment of TP53 mutations in benign and malignant salivary gland neoplasms. Gomes CC et al. 2012 PloS one
22879966 Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. Verschuren JJ et al. 2012 PloS one
22892830 Role of p53 codon 72 polymorphism in chromosomal aberrations and mitotic index in patients with chronic hepatitis B. Akbaş H et al. 2012 Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
22962577 Re-evaluation of the carcinogenic significance of hepatitis B virus integration in hepatocarcinogenesis. Jiang S et al. 2012 PloS one
22992668 Pharmacogenomics knowledge for personalized medicine. Whirl-Carrillo M et al. 2012 Clinical pharmacology and therapeutics
23029260 p53 codon 72 polymorphism and hematological cancer risk: an update meta-analysis. Weng Y et al. 2012 PloS one
23056405 Predicting the functional effect of amino acid substitutions and indels. Choi Y et al. 2012 PloS one
23072573 Multiplex allele-specific amplification from whole blood for detecting multiple polymorphisms simultaneously. Zhu J et al. 2013 Genetic testing and molecular biomarkers
23124483 Correlation of telomere length shortening with TP53 somatic mutations, polymorphisms and allelic loss in breast tumors and esophageal cancer. Hao XD et al. 2013 Oncology reports
23125046 TP53*P72 allele influences negatively female life expectancy in a population of central Italy: cross-sectional study and genetic-demographic approach analysis. Di Pietro F et al. 2013 The journals of gerontology. Series A, Biological sciences and medical sciences
23127113 Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases. Rinner B et al. 2012 BMC genomics
23168575 Candidate gene linkage approach to identify DNA variants that predispose to preterm birth. Bream EN et al. 2013 Pediatric research
23192612 Association of common WRAP 53 variant with ovarian cancer risk in the Polish population. Mędrek K et al. 2013 Molecular biology reports
23207172 The p53 codon 72 polymorphism (rs1042522) is associated with proliferative vitreoretinopathy: the Retina 4 Project. Pastor-Idoate S et al. 2013 Ophthalmology
23210739 Association of MDM2 and p53 polymorphisms with the advancement of cervical carcinoma. Singhal P et al. 2013 DNA and cell biology
23267696 Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study. Guo Y et al. 2012 BMC medical genomics
23311506 The association of a variant in the cell cycle control gene CCND1 and obesity on the development of asthma in the Swiss SAPALDIA study. Thun GA et al. 2013 The Journal of asthma
23360829 Association between polymorphisms in the genes for tumor suppressor protein p53 and its regulator NAD(P)H: quinone oxidoreductase 1 (NQO1) and schizophrenia in a Syrian study cohort. Lajin B et al. 2013 Archives of medical research
23423487 Effect of TP53 codon 72 and MDM2 SNP309 polymorphisms on survival of gastric cancer among patients who receiving 5-fluorouracil-based postoperative adjuvant chemotherapy. Wang S et al. 2013 Cancer chemotherapy and pharmacology
23552518 An identical, complex TP53 mutation arising independently in two unrelated families with diverse cancer profiles: the complexity of interpreting cancer risk in carriers. Pinto EM et al. 2012 Oncogenesis
23624782 Association of MDM2 SNP309 and TP53 Arg72Pro polymorphisms with risk of endometrial cancer. Yoneda T et al. 2013 Oncology reports
23632240 Promoter polymorphisms of pri-miR-34b/c are associated with hepatocellular carcinoma. Son MS et al. 2013 Gene
23653000 CXCL12 and TP53 genetic polymorphisms as markers of susceptibility in a Brazilian children population with acute lymphoblastic leukemia (ALL). de Lourdes Perim A et al. 2013 Molecular biology reports
23697595 SNPs in genes implicated in radiation response are associated with radiotoxicity and evoke roles as predictive and prognostic biomarkers. Alsbeih G et al. 2013 Radiation oncology (London, England)
23729685 Genotype misclassification in genetic association studies of the rs1042522 TP53 (Arg72Pro) polymorphism: a systematic review of studies of breast, lung, colorectal, ovarian, and endometrial cancer. Dahabreh IJ et al. 2013 American journal of epidemiology
23744327 [Association of P53 gene polymorphisms with susceptibility to endometriosis]. Huang Y et al. 2013 Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
23757202 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ et al. 2013 Human mutation
23820649 Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Cooper DN et al. 2013 Human genetics
23837945 Association of p53 and MDM2 polymorphisms with risk of human papillomavirus (HPV)-related esophageal squamous cell carcinoma (ESCC). Yang J et al. 2013 Cancer epidemiology
23887774 ACMG clinical laboratory standards for next-generation sequencing. Rehm HL et al. 2013 Genetics in medicine
23906684 Genetic associations with coronary heart disease: meta-analyses of 12 candidate genetic variants. Ye H et al. 2013 Gene
23946381 Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Ma X et al. 2014 Gut
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24084248 The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes. Molina E et al. 2013 Mutation research
24115240 TP53 single nucleotide polymorphism rs1042522 in salivary gland neoplasms. Gomes CC et al. 2014 Head & neck
24218030 Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. O'Brien KM et al. 2014 American journal of epidemiology
24266512 Association between TP53 gene Arg72Pro polymorphism and idiopathic infertility in southeast Chinese Han males. Jin Q et al. 2013 Systems biology in reproductive medicine
24369748 TP53 genetic polymorphisms, interactions with lifestyle factors and lung cancer risk: a case control study in a Chinese population. Li Y et al. 2013 BMC cancer
24370206 Risk genes in head and neck cancer: a systematic review and meta-analysis of last 5 years. Brunotto M et al. 2014 Oral oncology
24435975 p53 signaling pathway polymorphisms associated to recurrent pregnancy loss. Fraga LR et al. 2014 Molecular biology reports
24534481 Association between TLR2, MTR, MTRR, XPC, TP73, TP53 genetic polymorphisms and gastric cancer: a meta-analysis. Cheng C et al. 2014 Clinics and research in hepatology and gastroenterology
24586820 Evidence for an epistatic effect between TP53 R72P and MDM2 T309G SNPs in HIV infection: a cross-sectional study in women from South Brazil. Hartwig FP et al. 2014 PloS one
24632578 Combined effects of genetic variants of the PTEN, AKT1, MDM2 and p53 genes on the risk of nasopharyngeal carcinoma. Zhang X et al. 2014 PloS one
24654968 Germline genetics of the p53 pathway affect longevity in a gender specific manner. Groß S et al. 2014 Current aging science
24710610 No association of the p53 codon 72 polymorphism with malaria in Ghanaian primiparae and Rwandan children. Gai PP et al. 2014 The American journal of tropical medicine and hygiene
24728327 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL et al. 2014 PloS one
24818791 Genetic variation in the TP53 pathway and bladder cancer risk. a comprehensive analysis. Pineda S et al. 2014 PloS one
24820515 p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with an increased risk of esophageal cancer in a Chinese population. Zheng L et al. 2014 PloS one
24863946 No evidence of correlation between p53 codon 72 G > C gene polymorphism and cancer risk in Indian population: a meta-analysis. Mandal RK et al. 2014 Tumour biology
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
24944814 Association between p16(CDKN2A) C540G polymorphism and tumor behavior in prolactinoma: A single-center study. Cander S et al. 2014 Biomedical reports
25060098 Association between a single nucleotide polymorphism in the TP53 region and risk of ovarian cancer. Xi Y et al. 2014 Cell biochemistry and biophysics
25105660 Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene. Chitrala KN et al. 2014 PloS one
25203442 The functional TP53 rs1042522 and MDM4 rs4245739 genetic variants contribute to Non-Hodgkin lymphoma risk. Fan C et al. 2014 PloS one
25214541 A systematic review and meta-analysis of somatic and germline DNA sequence biomarkers of esophageal cancer survival, therapy response and stage. Findlay JM et al. 2015 Annals of oncology
25316267 TP53 and MDM2 polymorphisms and the risk of endometrial cancer in postmenopausal women. Zając A et al. 2014 Medical oncology (Northwood, London, England)
25412941 Association between polymorphisms in tumor suppressor genes and oncogenes and risk of hepatocellular carcinoma: a case-control study in an HCC epidemic area within the Han Chinese population. Su C et al. 2014 Medical oncology (Northwood, London, England)
25479941 Genetic association of single nucleotide polymorphisms in P53 pathway with gastric cancer risk in a Chinese Han population. Wu GC et al. 2015 Medical oncology (Northwood, London, England)
25514803 Targeted next-generation sequencing of cancer genes in advanced stage malignant pleural mesothelioma: a retrospective study. Lo Iacono M et al. 2015 Journal of thoracic oncology
25591549 Genetic polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/cisplatin chemotherapy. Tecza K et al. 2015 Journal of experimental & clinical cancer research
25719551 The role of genotypes that modify the toxicity of chemical mutagens in the risk for myeloproliferative neoplasms. Gross-Davis CA et al. 2015 International journal of environmental research and public health
25734904 Impact of TP53 codon 72 and MDM2 SNP 309 polymorphisms in pancreatic ductal adenocarcinoma. Hori Y et al. 2015 PloS one
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
25747431 No association of TP53 codon 72 SNP with male infertility: a study in a Chinese population and a meta-analysis. Chan Y et al. 2015 Systems biology in reproductive medicine
25819169 Meta-analysis of association between the TP53 Arg72Pro polymorphism and risk of endometriosis based on case-control studies. Yan Y et al. 2015 European journal of obstetrics, gynecology, and reproductive biology
25881102 Genetic variability in drug transport, metabolism or DNA repair affecting toxicity of chemotherapy in ovarian cancer. Lambrechts S et al. 2015 BMC pharmacology & toxicology
25889195 TP53 Arg72Pro polymorphism (rs1042522) and risk of endometriosis among Asian and Caucasian populations. Li J et al. 2015 European journal of obstetrics, gynecology, and reproductive biology
26025918 MDM2 and P53 polymorphisms contribute together to the risk and survival of prostate cancer. Xue L et al. 2016 Oncotarget
26099726 Fuzzy clustering demonstrates that codon 72 SNP rs1042522 of TP53 gene associated with HNSCC but not with prognoses. Pinheiro UB et al. 2015 Tumour biology
26130668 Nucleotide Excision Repair Gene ERCC2 and ERCC5 Variants Increase Risk of Uterine Cervical Cancer. Joo J et al. 2016 Cancer research and treatment
26226484 Genotype and Haplotype Analyses of TP53 Gene in Breast Cancer Patients: Association with Risk and Clinical Outcomes. Vymetalkova V et al. 2015 PloS one
26289323 Association of p53 rs1042522, MDM2 rs2279744, and p21 rs1801270 polymorphisms with retinoblastoma risk and invasion in a Chinese population. Chen R et al. 2015 Scientific reports
26305668 The Relationship between Vascular Endothelial Growth Factor 1154G/A Polymorphism and Recurrent Implantation Failure. Vagnini LD et al. 2015 Medical principles and practice
26382048 Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes. Jacovas VC et al. 2015 PloS one
26451011 Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas. Montazeri Z et al. 2016 International journal of epidemiology
26666818 Breast cancer risk in relation to TP53 codon 72 and CDH1 gene polymorphisms in the Bangladeshi women. Shabnaz S et al. 2016 Tumour biology
26683024 Comparison of Genetic Variants in Cancer-Related Genes between Chinese Hui and Han Populations. Tian C et al. 2015 PloS one
26690118 An Updated Review on the Genetics of Primary Open Angle Glaucoma. Abu-Amero K et al. 2015 International journal of molecular sciences
26696550 TP53 Codon 72 Polymorphism Predicts Efficacy of Paclitaxel Plus Capecitabine Chemotherapy in Advanced Gastric Cancer Patients. Zha Y et al. 2016 Archives of medical research
26867771 The MDM4 SNP34091 (rs4245739) C-allele is associated with increased risk of ovarian-but not endometrial cancer. Gansmo LB et al. 2016 Tumour biology
26870349 Impact of single-nucleotide polymorphisms on radiation pneumonitis in cancer patients. Guo CX et al. 2016 Molecular and clinical oncology
26873362 Gene Polymorphism Association with Type 2 Diabetes and Related Gene-Gene and Gene-Environment Interactions in a Uyghur Population. Xiao S et al. 2016 Medical science monitor
26887047 Retrospective study testing next generation sequencing of selected cancer-associated genes in resected prostate cancer. Lo Iacono M et al. 2016 Oncotarget
26900293 Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients. Chang YC et al. 2016 World journal of gastroenterology
26902998 The role of WWOX polymorphisms on COPD susceptibility and pulmonary function traits in Chinese: a case-control study and family-based analysis. Xie C et al. 2016 Scientific reports
27223485 Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Palmero EI et al. 2016 Genetics and molecular biology
27246533 The study of the relation of DNA repair pathway genes SNPs and the sensitivity to radiotherapy and chemotherapy of NSCLC. Wang C et al. 2016 Scientific reports
27248495 Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population. López Valverde G et al. 2016 PloS one
27277665 Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. Zholdybayeva EV et al. 2016 Human genomics
27282582 TP53 codon 72 polymorphism predicts chronic myeloid leukemia susceptibility and treatment outcome. Weich N et al. 2016 Blood cells, molecules & diseases
27376129 Independent Replication of Published Germline Polymorphisms Associated with Urinary Bladder Cancer Prognosis and Treatment Response. Grotenhuis AJ et al. 2016 Bladder cancer (Amsterdam, Netherlands)
27414035 Genetic Variants in the p14ARF/MDM2/TP53 Pathway Are Associated with the Prognosis of Esophageal Squamous Cell Carcinoma Patients Treated with Radical Resection. Li J et al. 2016 PloS one
27415837 Cervical Cancer Genetic Susceptibility: A Systematic Review and Meta-Analyses of Recent Evidence. Martínez-Nava GA et al. 2016 PloS one
27436625 The Arg72 variant of the p53 functional polymorphism (rs1042522) is associated with coronary artery disease in young South Africans of Indian ancestry. Khan S et al. 2016 Gene
27506496 A Functional Polymorphism (rs937283) in the MDM2 Promoter Region is Associated with Poor Prognosis of Retinoblastoma in Chinese Han Population. Jiao Y et al. 2016 Scientific reports
27574448 Polymorphism of CYP3A4 and ABCB1 genes increase the risk of neuropathy in breast cancer patients treated with paclitaxel and docetaxel. Kus T et al. 2016 OncoTargets and therapy
27588484 Gene-gene interactions in gastrointestinal cancer susceptibility. Kim J et al. 2016 Oncotarget
27614750 Association of p53 codon 72 polymorphism and survival of North Indian lung cancer patients treated with platinum-based chemotherapy. Kumari A et al. 2016 Molecular biology reports
27618021 Pharmacogenomics in Pediatric Oncology: Review of Gene-Drug Associations for Clinical Use. Mlakar V et al. 2016 International journal of molecular sciences
27619989 Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases. Hamadou WS et al. 2017 Familial cancer
27658049 Molecular Genetic Characterization of Individual Cancer Cells Isolated via Single-Cell Printing. Riba J et al. 2016 PloS one
27686769 [Association and interaction of heat shock proteins B1 gene and tumor-suppressor protein p53 gene with chromosome damage levels among coke oven workers]. Li XL et al. 2016 Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]
27698805 Genetic landscape of a case of extraovarian peritoneal serous papillary carcinoma. Cheng Z et al. 2016 Oncology letters
27716216 The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum. Gerhard GS et al. 2016 BMC medical genomics
27852141 A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers. Salemi M et al. 2017 The journal of maternal-fetal & neonatal medicine
27871254 Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53. Duffy DL et al. 2016 BMC nephrology
27900359 Homozygous inactivation of <i>CHEK2</i> is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs. Kukita Y et al. 2016 Cold Spring Harbor molecular case studies
28106707 ASSOCIATION STUDY BETWEEN POLYMORPHISMS OF THE p53 AND LYMPHOTOXIN ALPHA (LTA) GENES AND THE RISK OF PROLIFERATIVE VITREORETINOPATHY/RETINAL DETACHMENT IN A MEXICAN POPULATION. Quiroz-Casian N et al. 2018 Retina (Philadelphia, Pa.)
28125715 Correction: Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population. López Valverde G et al. 2017 PloS one
28179045 Analysis of Polymorphism rs1042522 in TP53 Gene in the Mothers of Twins and of Singletons: A Population-Based Study in Rio Grande do Sul, Brazil. Mardini AC et al. 2017 Twin research and human genetics
28184992 Association study between the TP53 Rs1042522G/C polymorphism and susceptibility to systemic lupus erythematosus in a Chinese Han population. Yang J et al. 2017 Rheumatology international
28210099 Study of polymorphisms in the <i>TP53</i> and <i>RB1</i> genes in children with retinoblastoma in northern Mexico. Anaya-Pava EJ et al. 2017 Molecular vision
28214592 Role of a p53 polymorphism in the development of nonfunctional pituitary adenomas. Yagnik G et al. 2017 Molecular and cellular endocrinology
28260929 Association between <i>TP53</i> gene Arg72Pro polymorphism and Wilms' tumor risk in a Chinese population. Fu W et al. 2017 OncoTargets and therapy
28275206 The <i>TP53</i> gene rs1042522 C&gt;G polymorphism and neuroblastoma risk in Chinese children. He J et al. 2017 Aging
28336930 TP53 Arg72Pro, mortality after cancer, and all-cause mortality in 105,200 individuals. Kodal JB et al. 2017 Scientific reports
28348449 Combined Genetic Biomarkers Confer Susceptibility to Risk of Urothelial Bladder Carcinoma in a Saudi Population. Elhawary NA et al. 2017 Disease markers
28351583 Candidate apoptotic and DNA repair gene approach confirms involvement of ERCC1, ERCC5, TP53 and MDM2 in radiation-induced toxicity in head and neck cancer. Borchiellini D et al. 2017 Oral oncology
28364582 Clinical relevance of TP53 polymorphic genetic variations in chronic lymphocytic leukemia. Bilous N et al. 2017 Leukemia research
28373458 Low Variability and Stable Frequency of Common Haplotypes of the <i>TP53</i> Gene Region in Colorectal Cancer Patients in a Slovak Population. Škereňová M et al. 2017 Anticancer research
28415781 Relevance of DNA repair gene polymorphisms to gastric cancer risk and phenotype. Carrera-Lasfuentes P et al. 2017 Oncotarget
28456797 Identification of Two Additional Susceptibility Loci for Inflammatory Bowel Disease in a Chinese Population. Lan X et al. 2017 Cellular physiology and biochemistry
28545270 [Correlation between mutation of p53 gene 2-4 exons from peripheral blood and HPV16 positive cervical cancer susceptibility and clinical significance]. Yin CM et al. 2017 Zhonghua fu chan ke za zhi
28652652 Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update. Sharma A et al. 2017 World journal of gastroenterology
28827732 Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies. Wang J et al. 2017 Scientific reports
28866361 Targeted next-generation sequencing of glandular odontogenic cyst: a preliminary study. Siqueira EC et al. 2017 Oral surgery, oral medicine, oral pathology and oral radiology
28881764 Detection of nasopharyngeal carcinoma susceptibility with single nucleotide polymorphism analysis using next-generation sequencing technology. Wu MY et al. 2017 Oncotarget
29063062 Association between the rs1042522 polymorphism in <i>TP53</i> and prostate cancer risk: An updated meta-analysis. Fan S et al. 2017 Chronic diseases and translational medicine
29126407 TP53 Arg72 as a favorable prognostic factor for Chinese diffuse large B-cell lymphoma patients treated with CHOP. Liu Y et al. 2017 BMC cancer
29167767 TP53 Gene Polymorphisms and Occupational Skin Cancer Risks for Workers of Glass Fiber Manufacture. Mukhammadiyeva GF et al. 2017 Iranian journal of public health
29193749 Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. Borobia AM et al. 2018 Clinical and translational science
29239811 The Wnt/β-catenin pathway is deregulated in cemento-ossifying fibromas. Pereira TDSF et al. 2018 Oral surgery, oral medicine, oral pathology and oral radiology
29286614 TP53 Gene Pro72Arg (rs1042522) Single Nucleotide Polymorphism as Not a Risk Factor for Colorectal Cancer in the Iranian Azari Population Asadi M et al. 2017 Asian Pacific journal of cancer prevention
29356585 Correlation Between Single-Nucleotide Polymorphisms Within miR-30a and Related Target Genes and Risk or Prognosis of Nephrotic Syndrome. Yang R et al. 2018 DNA and cell biology
29458332 Identification of genetic variants for clinical management of familial colorectal tumors. Dominguez-Valentin M et al. 2018 BMC medical genetics
29482350 Tumor Protein p53 (TP53) Gene and Left Main Coronary Artery Disease. Kolovou V et al. 2018 Angiology
29658252 [Single nucleotide polymorphism of the TP53 gene is not correlated with male infertility]. Ni MX et al. 2017 Zhonghua nan ke xue = National journal of andrology
29731921 <i>TP53</i> Arg72Pro polymorphism is associated with increased overall survival but not response to therapy in Portuguese/Caucasian patients with advanced cervical cancer. Coelho A et al. 2018 Oncology letters
29860059 Influence of tumour suppressor gene (TP53, BRCA1 and BRCA2) polymorphisms on polycystic ovary syndrome in South Indian women. Siddamalla S et al. 2018 European journal of obstetrics, gynecology, and reproductive biology
29949804 The 72Pro Variant of the Tumor Protein 53 Is Associated with an Increased Breast Cancer Risk in the Moroccan Population. Ayoubi SE et al. 2018 Pathobiology
29957069 Associations Between TP53 and MDM2 Polymorphisms and the Follicle-Stimulating Hormone/Luteinizing Hormone Ratio in Infertile Women. Chan Y et al. 2018 Genetic testing and molecular biomarkers
30126398 Effect of TP53 rs1042522 on the susceptibility of patients to oral squamous cell carcinoma and oral leukoplakia: a meta-analysis. Sun Z et al. 2018 BMC oral health
30235774 Systematic meta-analysis of genetic variants associated with osteosarcoma susceptibility. Wang X et al. 2018 Medicine
30288482 The frequency of <i>TP53</i> R72P and <i>MDM2</i> 309T&gt;G polymorphisms in Iranian infertile men with spermatogenetic failure: A case-control study. Ebrahim Abadi Z et al. 2018 International journal of reproductive biomedicine (Yazd, Iran)
30370260 Polymorphism Located in the Upstream Region of the <i>RPS19</i> Gene (rs2305809) Is Associated With Cervical Cancer: A Case-control Study. da Rocha Boeira T et al. 2018 Journal of cancer prevention
30409984 Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. John SE et al. 2018 Scientific reports
30519324 <i>P53</i> Codon 72 Polymorphism and Risk for Squamous Cell Carcinoma of the Penis: A Caucasian Case-Control Study. Stoehr R et al. 2018 Journal of Cancer
30551681 Association between Polymorphisms in Inflammatory Response-Related Genes and the Susceptibility, Progression and Prognosis of the Diffuse Histological Subtype of Gastric Cancer. Furuya TK et al. 2018 Genes
30607176 Association of rs1042522 SNP with Clinicopathologic Factors of Breast Cancer Patients in the Markazi Province of Iran. Anoushirvani AA et al. 2018 Open access Macedonian journal of medical sciences
30610160 <i>TP53</i> rs1042522 C&gt;G polymorphism and Wilms tumor susceptibility in Chinese children: a four-center case-control study. Liu P et al. 2019 Bioscience reports
30616520 Interaction between TP53 and XRCC1 increases susceptibility to cervical cancer development: a case control study. Liu GC et al. 2019 BMC cancer
30686012 TP53 rs1042522 and rs8064946 variants in myocardial infarction. Hakobjanyan A et al. 2018 Bratislavske lekarske listy
30695351 [ASSOCIATION OF CERTAIN SINGLE NUCLEOTIDE POLYMORPHISM GENES OF APOPTOSIS SYSTEM WITH A RISK OF DEVELOPMENT OF COLORECTAL CANCER IN RUSSIAN POPULATION]. Alyeva MK et al. 2016 Zhurnal mikrobiologii, epidemiologii, i immunobiologii
30719141 <i>TP53</i> gene rs1042522 allele G decreases neuroblastoma risk: a two-centre case-control study. Zhang J et al. 2019 Journal of Cancer
30793520 Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta-analysis and genome-wide association studies. Tian J et al. 2019 Cancer medicine
30796655 Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors. Aceto GM et al. 2019 Breast cancer research and treatment
30799775 Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population. Chen FY et al. 2018 Technology in cancer research & treatment
30807515 SINGLE NUCLEOTIDE POLYMORPHISMS IN RETINAL DETACHMENT PATIENTS WITH AND WITHOUT PROLIFERATIVE VITREORETINOPATHY. Lumi X et al. 2019 Retina (Philadelphia, Pa.)
30833364 Association between TP53 rs1042522 gene polymorphism and the risk of malignant bone tumors: a meta-analysis. Huang X et al. 2019 Bioscience reports
30841568 Intake of Red and Processed Meat, Use of Non-Steroid Anti-Inflammatory Drugs, Genetic Variants and Risk of Colorectal Cancer: A Prospective Study of the Danish "Diet, Cancer and Health" Cohort. Andersen V et al. 2019 International journal of molecular sciences
30867801 Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico. Uscanga-Perales GI et al. 2019 Oncology letters
30956778 Specific allelic variants of SNPs in the <i>MDM2</i> and <i>MDMX</i> genes are associated with earlier tumor onset and progression in Caucasian breast cancer patients. Bauer M et al. 2019 Oncotarget
30959967 Genetic Susceptibility in Head and Neck Squamous Cell Carcinoma in a Spanish Population. Fernández-Mateos J et al. 2019 Cancers
31028217 Impact of <i>MDM2, TP53</i> and <i>P14ARF</i> Polymorphisms on Endometrial Cancer Risk and Onset. Wujcicka W et al. 2019 In vivo (Athens, Greece)
31055723 TP53 Polymorphism Contributes to the Susceptibility to Bipolar Disorder but Not to Schizophrenia in the Chinese Han Population. Yang J et al. 2019 Journal of molecular neuroscience
31128065 TP53 Gene 72 Arg/Pro (rs1042522) Single Nucleotide Polymorphism Contribute to Increase the Risk of B-Chronic Lymphocytic Leukemia in the Sudanese Population Mohammed Basabaeen AA et al. 2019 Asian Pacific journal of cancer prevention
31205533 Five P53 SNPs Involved in Low Rectal Cancer Risk and Prognosis in a Chinese Population. Zhang G et al. 2019 Journal of Cancer
31211452 Long telomeres cooperate with p53, MDM2, and p21 polymorphisms to raise pediatric solid tumor risk. Borbora D et al. 2019 Pediatrics international

Genomic regions, transcripts, and products
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