Skip to main page content
Accesskeys

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.

rs121912666

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr17:7674872 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.00001 (2/246198, GnomAD)
C=0.00001 (1/125568, TOPMED)
C=0.00003 (3/119860, ExAC)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TP53 : Missense Variant
Publications
5 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.7674872T>C
GRCh38.p12 chr 17 NC_000017.11:g.7674872T>G
GRCh37.p13 chr 17 NC_000017.10:g.7578190T>C
GRCh37.p13 chr 17 NC_000017.10:g.7578190T>G
TP53 RefSeqGene (LRG_321) NG_017013.2:g.17679A>G
TP53 RefSeqGene (LRG_321) NG_017013.2:g.17679A>C
Gene: TP53, tumor protein p53 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TP53 transcript variant 5 NM_001126115.1:c.263A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform d NP_001119587.1:p.Tyr88Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 5 NM_001126115.1:c.263A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform d NP_001119587.1:p.Tyr88Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 6 NM_001126116.1:c.263A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform e NP_001119588.1:p.Tyr88Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 6 NM_001126116.1:c.263A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform e NP_001119588.1:p.Tyr88Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 7 NM_001126117.1:c.263A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform f NP_001119589.1:p.Tyr88Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 7 NM_001126117.1:c.263A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform f NP_001119589.1:p.Tyr88Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 1 NM_000546.5:c.659A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_000537.3:p.Tyr220Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 1 NM_000546.5:c.659A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_000537.3:p.Tyr220Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 2 NM_001126112.2:c.659A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_001119584.1:p.Tyr220Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 2 NM_001126112.2:c.659A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_001119584.1:p.Tyr220Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 4 NM_001126113.2:c.659A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform c NP_001119585.1:p.Tyr220Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 4 NM_001126113.2:c.659A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform c NP_001119585.1:p.Tyr220Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 3 NM_001126114.2:c.659A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform b NP_001119586.1:p.Tyr220Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 3 NM_001126114.2:c.659A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform b NP_001119586.1:p.Tyr220Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 8 NM_001126118.1:c.542A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001119590.1:p.Tyr181Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 8 NM_001126118.1:c.542A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001119590.1:p.Tyr181Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 1 NM_001276760.1:c.542A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263689.1:p.Tyr181Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 1 NM_001276760.1:c.542A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263689.1:p.Tyr181Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 2 NM_001276761.1:c.542A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263690.1:p.Tyr181Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 2 NM_001276761.1:c.542A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263690.1:p.Tyr181Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 4 NM_001276695.1:c.542A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform h NP_001263624.1:p.Tyr181Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 4 NM_001276695.1:c.542A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform h NP_001263624.1:p.Tyr181Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 3 NM_001276696.1:c.542A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform i NP_001263625.1:p.Tyr181Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 3 NM_001276696.1:c.542A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform i NP_001263625.1:p.Tyr181Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 5 NM_001276697.1:c.182A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform j NP_001263626.1:p.Tyr61Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 5 NM_001276697.1:c.182A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform j NP_001263626.1:p.Tyr61Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 6 NM_001276698.1:c.182A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform k NP_001263627.1:p.Tyr61Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 6 NM_001276698.1:c.182A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform k NP_001263627.1:p.Tyr61Ser Y (Tyr) > S (Ser) Missense Variant
TP53 transcript variant 7 NM_001276699.1:c.182A>G Y [TAT] > C [TGT] Coding Sequence Variant
cellular tumor antigen p53 isoform l NP_001263628.1:p.Tyr61Cys Y (Tyr) > C (Cys) Missense Variant
TP53 transcript variant 7 NM_001276699.1:c.182A>C Y [TAT] > S [TCT] Coding Sequence Variant
cellular tumor antigen p53 isoform l NP_001263628.1:p.Tyr61Ser Y (Tyr) > S (Ser) 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: C (allele ID: 133276 )
ClinVar Accession Disease Names Clinical Significance
RCV000115731.7 Hereditary cancer-predisposing syndrome Pathogenic
RCV000213055.2 not provided Pathogenic
RCV000232050.4 Li-Fraumeni syndrome Pathogenic
RCV000417417.1 Glioblastoma Likely-Pathogenic
RCV000418951.1 Ovarian Serous Cystadenocarcinoma Likely-Pathogenic
RCV000423029.1 Renal cell carcinoma, papillary, 1 Likely-Pathogenic
RCV000423111.1 Malignant neoplasm of body of uterus Likely-Pathogenic
RCV000423624.1 Neoplasm of the breast Likely-Pathogenic
RCV000425193.1 Squamous cell lung carcinoma Likely-Pathogenic
RCV000425869.1 Malignant melanoma of skin Likely-Pathogenic
RCV000428097.1 Transitional cell carcinoma of the bladder Likely-Pathogenic
RCV000428791.1 Papillary renal cell carcinoma, sporadic Likely-Pathogenic
RCV000433936.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000434300.1 Adenocarcinoma of stomach Likely-Pathogenic
RCV000434614.1 Adenocarcinoma of prostate Likely-Pathogenic
RCV000435063.1 Neoplasm of brain Likely-Pathogenic
RCV000436553.1 Uterine Carcinosarcoma Likely-Pathogenic
RCV000439456.1 Hepatocellular carcinoma Likely-Pathogenic
RCV000439645.1 Acute myeloid leukemia Likely-Pathogenic
RCV000440244.1 Pancreatic adenocarcinoma Likely-Pathogenic
RCV000442230.1 Lung adenocarcinoma Likely-Pathogenic
RCV000444717.1 Neoplasm of the large intestine Likely-Pathogenic
RCV000444814.1 Small cell lung cancer Likely-Pathogenic
RCV000593900.1 Li-Fraumeni syndrome 2 Pathogenic
Allele: G (allele ID: 27422 )
ClinVar Accession Disease Names Clinical Significance
RCV000013183.24 Li-Fraumeni syndrome 1 Pathogenic
RCV000417473.1 Renal cell carcinoma, papillary, 1 Likely-Pathogenic
RCV000418406.1 Squamous cell lung carcinoma Likely-Pathogenic
RCV000422874.1 Lung adenocarcinoma Likely-Pathogenic
RCV000423167.1 Hepatocellular carcinoma Likely-Pathogenic
RCV000424238.1 Pancreatic adenocarcinoma Likely-Pathogenic
RCV000425300.1 Ovarian Serous Cystadenocarcinoma Likely-Pathogenic
RCV000425801.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000428157.1 Adenocarcinoma of prostate Likely-Pathogenic
RCV000429097.1 Neoplasm of the breast Likely-Pathogenic
RCV000430581.1 Small cell lung cancer Likely-Pathogenic
RCV000432708.1 Malignant melanoma of skin Likely-Pathogenic
RCV000433786.1 Uterine Carcinosarcoma Likely-Pathogenic
RCV000435597.1 Malignant neoplasm of body of uterus Likely-Pathogenic
RCV000436486.1 Transitional cell carcinoma of the bladder Likely-Pathogenic
RCV000441285.1 Papillary renal cell carcinoma, sporadic Likely-Pathogenic
RCV000441465.1 Neoplasm of the large intestine Likely-Pathogenic
RCV000443214.1 Neoplasm of brain Likely-Pathogenic
RCV000444276.1 Glioblastoma Likely-Pathogenic
RCV000445060.1 Adenocarcinoma of stomach Likely-Pathogenic
RCV000472593.1 Li-Fraumeni syndrome Pathogenic
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 246198 T=0.99999 C=0.00001
gnomAD - Exomes European Sub 133966 T=0.99999 C=0.00001
gnomAD - Exomes Asian Sub 48018 T=1.0000 C=0.0000
gnomAD - Exomes American Sub 33580 T=1.0000 C=0.0000
gnomAD - Exomes African Sub 15298 T=1.0000 C=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 9850 T=1.000 C=0.000
gnomAD - Exomes Other Sub 5486 T=1.000 C=0.000
TopMed Global Study-wide 125568 T=0.99999 C=0.00001
ExAC Global Study-wide 119860 T=0.99997 C=0.00003
ExAC Europe Sub 72350 T=1.0000 C=0.0000
ExAC Asian Sub 24992 T=1.0000 C=0.0000
ExAC American Sub 11388 T=1.0000 C=0.0000
ExAC African Sub 10234 T=1.0000 C=0.0000
ExAC Other Sub 896 T=1.00 C=0.00
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 T= C G Note
GRCh38.p12 chr 17 NC_000017.11:g.76...

NC_000017.11:g.7674872T=

NC_000017.11:g.76...

NC_000017.11:g.7674872T>C

NC_000017.11:g.76...

NC_000017.11:g.7674872T>G

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

NC_000017.10:g.7578190T=

NC_000017.10:g.75...

NC_000017.10:g.7578190T>C

NC_000017.10:g.75...

NC_000017.10:g.7578190T>G

TP53 RefSeqGene (LRG_321) NG_017013.2:g.176...

NG_017013.2:g.17679A=

NG_017013.2:g.176...

NG_017013.2:g.17679A>G

NG_017013.2:g.176...

NG_017013.2:g.17679A>C

TP53 transcript variant 1 NM_000546.5:c.659A= NM_000546.5:c.659A>G NM_000546.5:c.659A>C
TP53 transcript variant 3 NM_001126114.2:c....

NM_001126114.2:c.659A=

NM_001126114.2:c....

NM_001126114.2:c.659A>G

NM_001126114.2:c....

NM_001126114.2:c.659A>C

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

NM_001126113.2:c.659A=

NM_001126113.2:c....

NM_001126113.2:c.659A>G

NM_001126113.2:c....

NM_001126113.2:c.659A>C

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

NM_001126112.2:c.659A=

NM_001126112.2:c....

NM_001126112.2:c.659A>G

NM_001126112.2:c....

NM_001126112.2:c.659A>C

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

NM_001276696.1:c.542A=

NM_001276696.1:c....

NM_001276696.1:c.542A>G

NM_001276696.1:c....

NM_001276696.1:c.542A>C

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

NM_001126118.1:c.542A=

NM_001126118.1:c....

NM_001126118.1:c.542A>G

NM_001126118.1:c....

NM_001126118.1:c.542A>C

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

NM_001276695.1:c.542A=

NM_001276695.1:c....

NM_001276695.1:c.542A>G

NM_001276695.1:c....

NM_001276695.1:c.542A>C

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

NM_001276760.1:c.542A=

NM_001276760.1:c....

NM_001276760.1:c.542A>G

NM_001276760.1:c....

NM_001276760.1:c.542A>C

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

NM_001276761.1:c.542A=

NM_001276761.1:c....

NM_001276761.1:c.542A>G

NM_001276761.1:c....

NM_001276761.1:c.542A>C

TP53 transcript variant 6 NM_001276698.1:c....

NM_001276698.1:c.182A=

NM_001276698.1:c....

NM_001276698.1:c.182A>G

NM_001276698.1:c....

NM_001276698.1:c.182A>C

TP53 transcript variant 6 NM_001126116.1:c....

NM_001126116.1:c.263A=

NM_001126116.1:c....

NM_001126116.1:c.263A>G

NM_001126116.1:c....

NM_001126116.1:c.263A>C

TP53 transcript variant 7 NM_001276699.1:c....

NM_001276699.1:c.182A=

NM_001276699.1:c....

NM_001276699.1:c.182A>G

NM_001276699.1:c....

NM_001276699.1:c.182A>C

TP53 transcript variant 7 NM_001126117.1:c....

NM_001126117.1:c.263A=

NM_001126117.1:c....

NM_001126117.1:c.263A>G

NM_001126117.1:c....

NM_001126117.1:c.263A>C

TP53 transcript variant 5 NM_001276697.1:c....

NM_001276697.1:c.182A=

NM_001276697.1:c....

NM_001276697.1:c.182A>G

NM_001276697.1:c....

NM_001276697.1:c.182A>C

TP53 transcript variant 5 NM_001126115.1:c....

NM_001126115.1:c.263A=

NM_001126115.1:c....

NM_001126115.1:c.263A>G

NM_001126115.1:c....

NM_001126115.1:c.263A>C

cellular tumor antigen p53 isoform a NP_000537.3:p.Tyr...

NP_000537.3:p.Tyr220=

NP_000537.3:p.Tyr...

NP_000537.3:p.Tyr220Cys

NP_000537.3:p.Tyr...

NP_000537.3:p.Tyr220Ser

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

NP_001119586.1:p.Tyr220=

NP_001119586.1:p....

NP_001119586.1:p.Tyr220Cys

NP_001119586.1:p....

NP_001119586.1:p.Tyr220Ser

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

NP_001119585.1:p.Tyr220=

NP_001119585.1:p....

NP_001119585.1:p.Tyr220Cys

NP_001119585.1:p....

NP_001119585.1:p.Tyr220Ser

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

NP_001119584.1:p.Tyr220=

NP_001119584.1:p....

NP_001119584.1:p.Tyr220Cys

NP_001119584.1:p....

NP_001119584.1:p.Tyr220Ser

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

NP_001263625.1:p.Tyr181=

NP_001263625.1:p....

NP_001263625.1:p.Tyr181Cys

NP_001263625.1:p....

NP_001263625.1:p.Tyr181Ser

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

NP_001119590.1:p.Tyr181=

NP_001119590.1:p....

NP_001119590.1:p.Tyr181Cys

NP_001119590.1:p....

NP_001119590.1:p.Tyr181Ser

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

NP_001263624.1:p.Tyr181=

NP_001263624.1:p....

NP_001263624.1:p.Tyr181Cys

NP_001263624.1:p....

NP_001263624.1:p.Tyr181Ser

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

NP_001263689.1:p.Tyr181=

NP_001263689.1:p....

NP_001263689.1:p.Tyr181Cys

NP_001263689.1:p....

NP_001263689.1:p.Tyr181Ser

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

NP_001263690.1:p.Tyr181=

NP_001263690.1:p....

NP_001263690.1:p.Tyr181Cys

NP_001263690.1:p....

NP_001263690.1:p.Tyr181Ser

cellular tumor antigen p53 isoform k NP_001263627.1:p....

NP_001263627.1:p.Tyr61=

NP_001263627.1:p....

NP_001263627.1:p.Tyr61Cys

NP_001263627.1:p....

NP_001263627.1:p.Tyr61Ser

cellular tumor antigen p53 isoform e NP_001119588.1:p....

NP_001119588.1:p.Tyr88=

NP_001119588.1:p....

NP_001119588.1:p.Tyr88Cys

NP_001119588.1:p....

NP_001119588.1:p.Tyr88Ser

cellular tumor antigen p53 isoform l NP_001263628.1:p....

NP_001263628.1:p.Tyr61=

NP_001263628.1:p....

NP_001263628.1:p.Tyr61Cys

NP_001263628.1:p....

NP_001263628.1:p.Tyr61Ser

cellular tumor antigen p53 isoform f NP_001119589.1:p....

NP_001119589.1:p.Tyr88=

NP_001119589.1:p....

NP_001119589.1:p.Tyr88Cys

NP_001119589.1:p....

NP_001119589.1:p.Tyr88Ser

cellular tumor antigen p53 isoform j NP_001263626.1:p....

NP_001263626.1:p.Tyr61=

NP_001263626.1:p....

NP_001263626.1:p.Tyr61Cys

NP_001263626.1:p....

NP_001263626.1:p.Tyr61Ser

cellular tumor antigen p53 isoform d NP_001119587.1:p....

NP_001119587.1:p.Tyr88=

NP_001119587.1:p....

NP_001119587.1:p.Tyr88Cys

NP_001119587.1:p....

NP_001119587.1:p.Tyr88Ser

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#.

6 SubSNP, 3 Frequency, 45 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss275513827 Nov 22, 2010 (133)
2 CLINVAR ss1457612920 Nov 23, 2014 (142)
3 EVA_EXAC ss1692579792 Apr 01, 2015 (144)
4 GENOMED ss1966658562 Feb 12, 2016 (147)
5 GNOMAD ss2742410387 Nov 08, 2017 (151)
6 TOPMED ss3256688145 Nov 08, 2017 (151)
7 ExAC NC_000017.10 - 7578190 Oct 12, 2018 (152)
8 gnomAD - Exomes NC_000017.10 - 7578190 Oct 12, 2018 (152)
9 TopMed NC_000017.11 - 7674872 Oct 12, 2018 (152)
10 ClinVar RCV000013183.24 Oct 12, 2018 (152)
11 ClinVar RCV000115731.7 Oct 12, 2018 (152)
12 ClinVar RCV000213055.2 Oct 12, 2018 (152)
13 ClinVar RCV000232050.4 Oct 12, 2018 (152)
14 ClinVar RCV000417417.1 Oct 12, 2018 (152)
15 ClinVar RCV000417473.1 Oct 12, 2018 (152)
16 ClinVar RCV000418406.1 Oct 12, 2018 (152)
17 ClinVar RCV000418951.1 Oct 12, 2018 (152)
18 ClinVar RCV000422874.1 Oct 12, 2018 (152)
19 ClinVar RCV000423029.1 Oct 12, 2018 (152)
20 ClinVar RCV000423111.1 Oct 12, 2018 (152)
21 ClinVar RCV000423167.1 Oct 12, 2018 (152)
22 ClinVar RCV000423624.1 Oct 12, 2018 (152)
23 ClinVar RCV000424238.1 Oct 12, 2018 (152)
24 ClinVar RCV000425193.1 Oct 12, 2018 (152)
25 ClinVar RCV000425300.1 Oct 12, 2018 (152)
26 ClinVar RCV000425801.1 Oct 12, 2018 (152)
27 ClinVar RCV000425869.1 Oct 12, 2018 (152)
28 ClinVar RCV000428097.1 Oct 12, 2018 (152)
29 ClinVar RCV000428157.1 Oct 12, 2018 (152)
30 ClinVar RCV000428791.1 Oct 12, 2018 (152)
31 ClinVar RCV000429097.1 Oct 12, 2018 (152)
32 ClinVar RCV000430581.1 Oct 12, 2018 (152)
33 ClinVar RCV000432708.1 Oct 12, 2018 (152)
34 ClinVar RCV000433786.1 Oct 12, 2018 (152)
35 ClinVar RCV000433936.1 Oct 12, 2018 (152)
36 ClinVar RCV000434300.1 Oct 12, 2018 (152)
37 ClinVar RCV000434614.1 Oct 12, 2018 (152)
38 ClinVar RCV000435063.1 Oct 12, 2018 (152)
39 ClinVar RCV000435597.1 Oct 12, 2018 (152)
40 ClinVar RCV000436486.1 Oct 12, 2018 (152)
41 ClinVar RCV000436553.1 Oct 12, 2018 (152)
42 ClinVar RCV000439456.1 Oct 12, 2018 (152)
43 ClinVar RCV000439645.1 Oct 12, 2018 (152)
44 ClinVar RCV000440244.1 Oct 12, 2018 (152)
45 ClinVar RCV000441285.1 Oct 12, 2018 (152)
46 ClinVar RCV000441465.1 Oct 12, 2018 (152)
47 ClinVar RCV000442230.1 Oct 12, 2018 (152)
48 ClinVar RCV000443214.1 Oct 12, 2018 (152)
49 ClinVar RCV000444276.1 Oct 12, 2018 (152)
50 ClinVar RCV000444717.1 Oct 12, 2018 (152)
51 ClinVar RCV000444814.1 Oct 12, 2018 (152)
52 ClinVar RCV000445060.1 Oct 12, 2018 (152)
53 ClinVar RCV000472593.1 Oct 12, 2018 (152)
54 ClinVar RCV000593900.1 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).

Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
3007562, 9224221, ss1692579792, ss1966658562, ss2742410387 NC_000017.10:7578189:T:C NC_000017.11:7674871:T:C (self)
RCV000115731.7, RCV000213055.2, RCV000232050.4, RCV000417417.1, RCV000418951.1, RCV000423029.1, RCV000423111.1, RCV000423624.1, RCV000425193.1, RCV000425869.1, RCV000428097.1, RCV000428791.1, RCV000433936.1, RCV000434300.1, RCV000434614.1, RCV000435063.1, RCV000436553.1, RCV000439456.1, RCV000439645.1, RCV000440244.1, RCV000442230.1, RCV000444717.1, RCV000444814.1, RCV000593900.1, 152406093, ss1457612920, ss3256688145 NC_000017.11:7674871:T:C NC_000017.11:7674871:T:C (self)
RCV000013183.24, RCV000417473.1, RCV000418406.1, RCV000422874.1, RCV000423167.1, RCV000424238.1, RCV000425300.1, RCV000425801.1, RCV000428157.1, RCV000429097.1, RCV000430581.1, RCV000432708.1, RCV000433786.1, RCV000435597.1, RCV000436486.1, RCV000441285.1, RCV000441465.1, RCV000443214.1, RCV000444276.1, RCV000445060.1, RCV000472593.1, ss275513827 NC_000017.11:7674871:T:G NC_000017.11:7674871:T:G (self)
Help

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

5 citations for rs121912666
PMID Title Author Year Journal
15977174 Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 mutation. Capponcelli S et al. 2005 Human mutation
24381225 Haploinsufficiency of del(5q) genes, Egr1 and Apc, cooperate with Tp53 loss to induce acute myeloid leukemia in mice. Stoddart A et al. 2014 Blood
24487413 Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients. Kihara R et al. 2014 Leukemia
24641375 Prognostic significance of TP53 mutations and single nucleotide polymorphisms in acute myeloid leukemia: a case series and literature review. Zeichner SB et al. 2014 Asian Pacific journal of cancer prevention
26619011 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT et al. 2016 Nature biotechnology

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post104+4a6ee9c