dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
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.
rs1799793
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr19:45364001 (GRCh38.p14) 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
- C>A / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.242941 (64304/264690, TOPMED)T=0.263102 (36860/140098, GnomAD)T=0.31501 (24200/76822, ALFA) (+ 18 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ERCC2 : Missense Variant
- Publications
- 174 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 76914 | C=0.68495 | T=0.31505 |
| European | Sub | 57422 | C=0.65273 | T=0.34727 |
| African | Sub | 8180 | C=0.8754 | T=0.1246 |
| African Others | Sub | 272 | C=0.919 | T=0.081 |
| African American | Sub | 7908 | C=0.8739 | T=0.1261 |
| Asian | Sub | 492 | C=0.945 | T=0.055 |
| East Asian | Sub | 396 | C=0.937 | T=0.063 |
| Other Asian | Sub | 96 | C=0.98 | T=0.02 |
| Latin American 1 | Sub | 846 | C=0.780 | T=0.220 |
| Latin American 2 | Sub | 852 | C=0.778 | T=0.222 |
| South Asian | Sub | 162 | C=0.623 | T=0.377 |
| Other | Sub | 8960 | C=0.6865 | T=0.3135 |
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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.757059 | T=0.242941 |
| gnomAD - Genomes | Global | Study-wide | 140098 | C=0.736898 | T=0.263102 |
| gnomAD - Genomes | European | Sub | 75854 | C=0.64384 | T=0.35616 |
| gnomAD - Genomes | African | Sub | 41994 | C=0.88556 | T=0.11444 |
| gnomAD - Genomes | American | Sub | 13646 | C=0.76674 | T=0.23326 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=0.6487 | T=0.3513 |
| gnomAD - Genomes | East Asian | Sub | 3130 | C=0.9540 | T=0.0460 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.7472 | T=0.2528 |
| Allele Frequency Aggregator | Total | Global | 76822 | C=0.68499 | T=0.31501 |
| Allele Frequency Aggregator | European | Sub | 57348 | C=0.65273 | T=0.34727 |
| Allele Frequency Aggregator | Other | Sub | 8942 | C=0.6865 | T=0.3135 |
| Allele Frequency Aggregator | African | Sub | 8180 | C=0.8754 | T=0.1246 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 852 | C=0.778 | T=0.222 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 846 | C=0.780 | T=0.220 |
| Allele Frequency Aggregator | Asian | Sub | 492 | C=0.945 | T=0.055 |
| Allele Frequency Aggregator | South Asian | Sub | 162 | C=0.623 | T=0.377 |
| 14KJPN | JAPANESE | Study-wide | 28242 | C=0.96417 | T=0.03583 |
| 8.3KJPN | JAPANESE | Study-wide | 16744 | C=0.96345 | T=0.03655 |
| ExAC | Global | Study-wide | 15646 | C=0.62118 | T=0.37882 |
| ExAC | Asian | Sub | 8328 | C=0.6413 | T=0.3587 |
| ExAC | Europe | Sub | 6016 | C=0.5607 | T=0.4393 |
| ExAC | African | Sub | 846 | C=0.843 | T=0.157 |
| ExAC | American | Sub | 306 | C=0.634 | T=0.366 |
| ExAC | Other | Sub | 150 | C=0.653 | T=0.347 |
| GO Exome Sequencing Project | Global | Study-wide | 11868 | C=0.75615 | T=0.24385 |
| GO Exome Sequencing Project | European American | Sub | 7904 | C=0.6828 | T=0.3172 |
| GO Exome Sequencing Project | African American | Sub | 3964 | C=0.9024 | T=0.0976 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.8086 | T=0.1914 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9255 | T=0.0745 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.6524 | T=0.3476 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.6639 | T=0.3361 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9479 | T=0.0521 |
| 1000Genomes_30x | American | Sub | 980 | C=0.808 | T=0.192 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.8055 | T=0.1945 |
| 1000Genomes | African | Sub | 1322 | C=0.9266 | T=0.0734 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9504 | T=0.0496 |
| 1000Genomes | Europe | Sub | 1006 | C=0.6412 | T=0.3588 |
| 1000Genomes | South Asian | Sub | 978 | C=0.665 | T=0.335 |
| 1000Genomes | American | Sub | 694 | C=0.801 | T=0.199 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.6185 | T=0.3815 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.6609 | T=0.3391 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.6392 | T=0.3608 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=0.9487 | T=0.0513 |
| Korean Genome Project | KOREAN | Study-wide | 1778 | C=0.9477 | T=0.0523 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.650 | T=0.350 |
| HapMap | Global | Study-wide | 324 | C=0.833 | T=0.167 |
| HapMap | African | Sub | 118 | C=0.932 | T=0.068 |
| HapMap | American | Sub | 118 | C=0.686 | T=0.314 |
| HapMap | Asian | Sub | 88 | C=0.90 | T=0.10 |
| Qatari | Global | Study-wide | 216 | C=0.694 | T=0.306 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | C=0.977 | T=0.023 |
| SGDP_PRJ | Global | Study-wide | 170 | C=0.418 | T=0.582 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.70 | T=0.30 |
| Siberian | Global | Study-wide | 22 | C=0.36 | T=0.64 |
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.p14 chr 19 | NC_000019.10:g.45364001C>A |
| GRCh38.p14 chr 19 | NC_000019.10:g.45364001C>T |
| GRCh37.p13 chr 19 | NC_000019.9:g.45867259C>A |
| GRCh37.p13 chr 19 | NC_000019.9:g.45867259C>T |
| ERCC2 RefSeqGene (LRG_461) | NG_007067.2:g.11587G>T |
| ERCC2 RefSeqGene (LRG_461) | NG_007067.2:g.11587G>A |
Gene: ERCC2, ERCC excision repair 2, TFIIH core complex helicase subunit
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ERCC2 transcript variant 1 | NM_000400.4:c.934G>T | D [GAC] > Y [TAC] | Coding Sequence Variant |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform 1 | NP_000391.1:p.Asp312Tyr | D (Asp) > Y (Tyr) | Missense Variant |
| ERCC2 transcript variant 1 | NM_000400.4:c.934G>A | D [GAC] > N [AAC] | Coding Sequence Variant |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform 1 | NP_000391.1:p.Asp312Asn | D (Asp) > N (Asn) | Missense Variant |
| ERCC2 transcript variant 2 | NM_001130867.2:c.862G>T | D [GAC] > Y [TAC] | Coding Sequence Variant |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform 2 | NP_001124339.1:p.Asp288Tyr | D (Asp) > Y (Tyr) | Missense Variant |
| ERCC2 transcript variant 2 | NM_001130867.2:c.862G>A | D [GAC] > N [AAC] | Coding Sequence Variant |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform 2 | NP_001124339.1:p.Asp288Asn | D (Asp) > N (Asn) | Missense Variant |
| ERCC2 transcript variant X2 | XM_011526611.3:c.856G>T | D [GAC] > Y [TAC] | Coding Sequence Variant |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform X1 | XP_011524913.1:p.Asp286Tyr | D (Asp) > Y (Tyr) | Missense Variant |
| ERCC2 transcript variant X2 | XM_011526611.3:c.856G>A | D [GAC] > N [AAC] | Coding Sequence Variant |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform X1 | XP_011524913.1:p.Asp286Asn | D (Asp) > N (Asn) | Missense Variant |
| ERCC2 transcript variant X4 | XM_047438393.1:c.934G>T | D [GAC] > Y [TAC] | Coding Sequence Variant |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform X2 | XP_047294349.1:p.Asp312Tyr | D (Asp) > Y (Tyr) | Missense Variant |
| ERCC2 transcript variant X4 | XM_047438393.1:c.934G>A | D [GAC] > N [AAC] | Coding Sequence Variant |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform X2 | XP_047294349.1:p.Asp312Asn | D (Asp) > N (Asn) | Missense Variant |
| ERCC2 transcript variant X1 | XR_001753633.3:n.967G>T | N/A | Non Coding Transcript Variant |
| ERCC2 transcript variant X1 | XR_001753633.3:n.967G>A | N/A | Non Coding Transcript Variant |
| ERCC2 transcript variant X3 | XR_007066680.1:n.889G>T | N/A | Non Coding Transcript Variant |
| ERCC2 transcript variant X3 | XR_007066680.1:n.889G>A | N/A | Non Coding Transcript 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: T (allele ID:
137856
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000120789.8 | not specified | Benign-Likely-Benign |
| RCV000990231.5 | Xeroderma pigmentosum, group D | Benign |
| RCV001514552.7 | not provided | Benign |
| RCV001657759.2 | Cerebrooculofacioskeletal syndrome 2 | Benign |
| RCV001657760.2 | Trichothiodystrophy 1, photosensitive | Benign |
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 | C= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 19 | NC_000019.10:g.45364001= | NC_000019.10:g.45364001C>A | NC_000019.10:g.45364001C>T |
| GRCh37.p13 chr 19 | NC_000019.9:g.45867259= | NC_000019.9:g.45867259C>A | NC_000019.9:g.45867259C>T |
| ERCC2 RefSeqGene (LRG_461) | NG_007067.2:g.11587= | NG_007067.2:g.11587G>T | NG_007067.2:g.11587G>A |
| ERCC2 transcript variant 1 | NM_000400.4:c.934= | NM_000400.4:c.934G>T | NM_000400.4:c.934G>A |
| ERCC2 transcript variant 1 | NM_000400.3:c.934= | NM_000400.3:c.934G>T | NM_000400.3:c.934G>A |
| ERCC2 transcript variant 2 | NM_001130867.2:c.862= | NM_001130867.2:c.862G>T | NM_001130867.2:c.862G>A |
| ERCC2 transcript variant 2 | NM_001130867.1:c.862= | NM_001130867.1:c.862G>T | NM_001130867.1:c.862G>A |
| ERCC2 transcript variant X2 | XM_011526611.3:c.856= | XM_011526611.3:c.856G>T | XM_011526611.3:c.856G>A |
| ERCC2 transcript variant X2 | XM_011526611.2:c.856= | XM_011526611.2:c.856G>T | XM_011526611.2:c.856G>A |
| ERCC2 transcript variant X1 | XM_011526611.1:c.856= | XM_011526611.1:c.856G>T | XM_011526611.1:c.856G>A |
| ERCC2 transcript variant X1 | XR_001753633.3:n.967= | XR_001753633.3:n.967G>T | XR_001753633.3:n.967G>A |
| ERCC2 transcript variant X1 | XR_001753633.2:n.981= | XR_001753633.2:n.981G>T | XR_001753633.2:n.981G>A |
| ERCC2 transcript variant X1 | XR_001753633.1:n.1041= | XR_001753633.1:n.1041G>T | XR_001753633.1:n.1041G>A |
| ERCC2 transcript variant X3 | XR_007066680.1:n.889= | XR_007066680.1:n.889G>T | XR_007066680.1:n.889G>A |
| ERCC2 transcript variant X4 | XM_047438393.1:c.934= | XM_047438393.1:c.934G>T | XM_047438393.1:c.934G>A |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform 1 | NP_000391.1:p.Asp312= | NP_000391.1:p.Asp312Tyr | NP_000391.1:p.Asp312Asn |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform 2 | NP_001124339.1:p.Asp288= | NP_001124339.1:p.Asp288Tyr | NP_001124339.1:p.Asp288Asn |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform X1 | XP_011524913.1:p.Asp286= | XP_011524913.1:p.Asp286Tyr | XP_011524913.1:p.Asp286Asn |
| general transcription and DNA repair factor IIH helicase subunit XPD isoform X2 | XP_047294349.1:p.Asp312= | XP_047294349.1:p.Asp312Tyr | XP_047294349.1:p.Asp312Asn |
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#.
105 SubSNP,
23 Frequency,
5 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HGBASE | ss2419809 | Nov 14, 2000 (89) |
| 2 | EGP_SNPS | ss4385668 | Oct 10, 2002 (110) |
| 3 | SNP500CANCER | ss6903793 | Jul 02, 2003 (116) |
| 4 | WI_SSAHASNP | ss12470200 | Jul 11, 2003 (116) |
| 5 | CSHL-HAPMAP | ss19408393 | Feb 27, 2004 (120) |
| 6 | SSAHASNP | ss21539926 | Apr 05, 2004 (121) |
| 7 | ABI | ss44162132 | Mar 13, 2006 (126) |
| 8 | ILLUMINA | ss66803841 | Dec 01, 2006 (127) |
| 9 | ILLUMINA | ss67196955 | Dec 01, 2006 (127) |
| 10 | ILLUMINA | ss67585848 | Dec 01, 2006 (127) |
| 11 | CGM_KYOTO | ss76869186 | Dec 06, 2007 (129) |
| 12 | KRIBB_YJKIM | ss83877254 | Dec 15, 2007 (130) |
| 13 | BCMHGSC_JDW | ss90986647 | Mar 24, 2008 (129) |
| 14 | HUMANGENOME_JCVI | ss96309245 | Feb 05, 2009 (130) |
| 15 | ENSEMBL | ss132770317 | Dec 01, 2009 (131) |
| 16 | ILLUMINA | ss160462672 | Dec 01, 2009 (131) |
| 17 | COMPLETE_GENOMICS | ss168249666 | Jul 04, 2010 (132) |
| 18 | BUSHMAN | ss203766783 | Jul 04, 2010 (132) |
| 19 | 1000GENOMES | ss237690586 | Jul 15, 2010 (132) |
| 20 | 1000GENOMES | ss243893157 | Jul 15, 2010 (132) |
| 21 | BL | ss255702887 | May 09, 2011 (134) |
| 22 | PJP | ss292184385 | May 09, 2011 (134) |
| 23 | ILLUMINA | ss481066482 | Sep 08, 2015 (146) |
| 24 | 1000GENOMES | ss491162005 | May 04, 2012 (137) |
| 25 | EXOME_CHIP | ss491549745 | May 04, 2012 (137) |
| 26 | TISHKOFF | ss566009953 | Apr 25, 2013 (138) |
| 27 | SSMP | ss661876619 | Apr 25, 2013 (138) |
| 28 | NHLBI-ESP | ss713520602 | Apr 25, 2013 (138) |
| 29 | JMKIDD_LAB | ss974506716 | Aug 21, 2014 (142) |
| 30 | EVA-GONL | ss994342687 | Aug 21, 2014 (142) |
| 31 | JMKIDD_LAB | ss1067590910 | Aug 21, 2014 (142) |
| 32 | JMKIDD_LAB | ss1081932798 | Aug 21, 2014 (142) |
| 33 | 1000GENOMES | ss1363341050 | Aug 21, 2014 (142) |
| 34 | DDI | ss1428414769 | Apr 01, 2015 (144) |
| 35 | CLINVAR | ss1457609599 | Nov 23, 2014 (142) |
| 36 | EVA_GENOME_DK | ss1578654916 | Apr 01, 2015 (144) |
| 37 | EVA_UK10K_ALSPAC | ss1638050285 | Apr 01, 2015 (144) |
| 38 | EVA_UK10K_TWINSUK | ss1681044318 | Apr 01, 2015 (144) |
| 39 | EVA_EXAC | ss1693672333 | Apr 01, 2015 (144) |
| 40 | EVA_DECODE | ss1698397677 | Apr 01, 2015 (144) |
| 41 | WEILL_CORNELL_DGM | ss1937839742 | Feb 12, 2016 (147) |
| 42 | ILLUMINA | ss1959870304 | Feb 12, 2016 (147) |
| 43 | JJLAB | ss2029697012 | Sep 14, 2016 (149) |
| 44 | USC_VALOUEV | ss2158240194 | Dec 20, 2016 (150) |
| 45 | HUMAN_LONGEVITY | ss2226042422 | Dec 20, 2016 (150) |
| 46 | GRF | ss2702853336 | Nov 08, 2017 (151) |
| 47 | ILLUMINA | ss2710884247 | Nov 08, 2017 (151) |
| 48 | GNOMAD | ss2744102044 | Nov 08, 2017 (151) |
| 49 | GNOMAD | ss2750222567 | Nov 08, 2017 (151) |
| 50 | GNOMAD | ss2963373202 | Nov 08, 2017 (151) |
| 51 | AFFY | ss2985144923 | Nov 08, 2017 (151) |
| 52 | AFFY | ss2985775734 | Nov 08, 2017 (151) |
| 53 | SWEGEN | ss3017547039 | Nov 08, 2017 (151) |
| 54 | ILLUMINA | ss3021912231 | Nov 08, 2017 (151) |
| 55 | EVA_SAMSUNG_MC | ss3023072275 | Nov 08, 2017 (151) |
| 56 | CSHL | ss3352322364 | Nov 08, 2017 (151) |
| 57 | ILLUMINA | ss3636425337 | Oct 12, 2018 (152) |
| 58 | ILLUMINA | ss3639120581 | Oct 12, 2018 (152) |
| 59 | ILLUMINA | ss3639570969 | Oct 12, 2018 (152) |
| 60 | BIOINF_KMB_FNS_UNIBA | ss3645523058 | Oct 12, 2018 (152) |
| 61 | OMUKHERJEE_ADBS | ss3646538507 | Oct 12, 2018 (152) |
| 62 | URBANLAB | ss3650925770 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3652338348 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3653917686 | Oct 12, 2018 (152) |
| 65 | EGCUT_WGS | ss3684292361 | Jul 13, 2019 (153) |
| 66 | EVA_DECODE | ss3702853058 | Jul 13, 2019 (153) |
| 67 | ACPOP | ss3743075484 | Jul 13, 2019 (153) |
| 68 | EVA | ss3756115936 | Jul 13, 2019 (153) |
| 69 | PACBIO | ss3788542346 | Jul 13, 2019 (153) |
| 70 | PACBIO | ss3793450380 | Jul 13, 2019 (153) |
| 71 | PACBIO | ss3798337265 | Jul 13, 2019 (153) |
| 72 | KHV_HUMAN_GENOMES | ss3821364085 | Jul 13, 2019 (153) |
| 73 | EVA | ss3825302812 | Apr 27, 2020 (154) |
| 74 | EVA | ss3825533048 | Apr 27, 2020 (154) |
| 75 | EVA | ss3825547485 | Apr 27, 2020 (154) |
| 76 | EVA | ss3825938577 | Apr 27, 2020 (154) |
| 77 | EVA | ss3835482991 | Apr 27, 2020 (154) |
| 78 | EVA | ss3841364241 | Apr 27, 2020 (154) |
| 79 | EVA | ss3846870313 | Apr 27, 2020 (154) |
| 80 | SGDP_PRJ | ss3888313044 | Apr 27, 2020 (154) |
| 81 | KRGDB | ss3938442158 | Apr 27, 2020 (154) |
| 82 | KOGIC | ss3981445470 | Apr 27, 2020 (154) |
| 83 | FSA-LAB | ss3984157108 | Apr 26, 2021 (155) |
| 84 | EVA | ss3986081252 | Apr 26, 2021 (155) |
| 85 | EVA | ss3986802926 | Apr 26, 2021 (155) |
| 86 | TOPMED | ss5076288459 | Apr 26, 2021 (155) |
| 87 | TOMMO_GENOMICS | ss5227968189 | Apr 26, 2021 (155) |
| 88 | EVA | ss5236962882 | Apr 26, 2021 (155) |
| 89 | EVA | ss5237672960 | Oct 13, 2022 (156) |
| 90 | 1000G_HIGH_COVERAGE | ss5307409333 | Oct 13, 2022 (156) |
| 91 | TRAN_CS_UWATERLOO | ss5314453703 | Oct 13, 2022 (156) |
| 92 | EVA | ss5435111119 | Oct 13, 2022 (156) |
| 93 | HUGCELL_USP | ss5499903082 | Oct 13, 2022 (156) |
| 94 | 1000G_HIGH_COVERAGE | ss5613210703 | Oct 13, 2022 (156) |
| 95 | EVA | ss5623978385 | Oct 13, 2022 (156) |
| 96 | EVA | ss5624091672 | Oct 13, 2022 (156) |
| 97 | SANFORD_IMAGENETICS | ss5662482932 | Oct 13, 2022 (156) |
| 98 | TOMMO_GENOMICS | ss5786668880 | Oct 13, 2022 (156) |
| 99 | EVA | ss5800223914 | Oct 13, 2022 (156) |
| 100 | YY_MCH | ss5817639925 | Oct 13, 2022 (156) |
| 101 | EVA | ss5840611556 | Oct 13, 2022 (156) |
| 102 | EVA | ss5848495759 | Oct 13, 2022 (156) |
| 103 | EVA | ss5852305234 | Oct 13, 2022 (156) |
| 104 | EVA | ss5928270917 | Oct 13, 2022 (156) |
| 105 | EVA | ss5953892331 | Oct 13, 2022 (156) |
| 106 | 1000Genomes | NC_000019.9 - 45867259 | Oct 12, 2018 (152) |
| 107 | 1000Genomes_30x | NC_000019.10 - 45364001 | Oct 13, 2022 (156) |
| 108 | The Avon Longitudinal Study of Parents and Children | NC_000019.9 - 45867259 | Oct 12, 2018 (152) |
| 109 | Genetic variation in the Estonian population | NC_000019.9 - 45867259 | Oct 12, 2018 (152) |
| 110 | ExAC | NC_000019.9 - 45867259 | Oct 12, 2018 (152) |
| 111 | The Danish reference pan genome | NC_000019.9 - 45867259 | Apr 27, 2020 (154) |
| 112 | gnomAD - Genomes | NC_000019.10 - 45364001 | Apr 26, 2021 (155) |
| 113 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 114 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 115 | GO Exome Sequencing Project | NC_000019.9 - 45867259 | Oct 12, 2018 (152) |
| 116 | HapMap | NC_000019.10 - 45364001 | Apr 27, 2020 (154) |
| 117 | KOREAN population from KRGDB | NC_000019.9 - 45867259 | Apr 27, 2020 (154) |
| 118 | Korean Genome Project | NC_000019.10 - 45364001 | Apr 27, 2020 (154) |
| 119 | Northern Sweden | NC_000019.9 - 45867259 | Jul 13, 2019 (153) |
| 120 | Qatari | NC_000019.9 - 45867259 | Apr 27, 2020 (154) |
| 121 | SGDP_PRJ | NC_000019.9 - 45867259 | Apr 27, 2020 (154) |
| 122 | Siberian | NC_000019.9 - 45867259 | Apr 27, 2020 (154) |
| 123 | 8.3KJPN | NC_000019.9 - 45867259 | Apr 26, 2021 (155) |
| 124 | 14KJPN | NC_000019.10 - 45364001 | Oct 13, 2022 (156) |
| 125 | TopMed | NC_000019.10 - 45364001 | Apr 26, 2021 (155) |
| 126 | UK 10K study - Twins | NC_000019.9 - 45867259 | Oct 12, 2018 (152) |
| 127 | A Vietnamese Genetic Variation Database | NC_000019.9 - 45867259 | Jul 13, 2019 (153) |
| 128 | ALFA | NC_000019.10 - 45364001 | Apr 26, 2021 (155) |
| 129 | ClinVar | RCV000120789.8 | Oct 13, 2022 (156) |
| 130 | ClinVar | RCV000990231.5 | Oct 13, 2022 (156) |
| 131 | ClinVar | RCV001514552.7 | Oct 13, 2022 (156) |
| 132 | ClinVar | RCV001657759.2 | Oct 13, 2022 (156) |
| 133 | ClinVar | RCV001657760.2 | Oct 13, 2022 (156) |
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) |
|---|---|
| rs3916814 | Dec 16, 2002 (110) |
| rs58989209 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss2744102044 | NC_000019.9:45867258:C:A | NC_000019.10:45364000:C:A | (self) |
| ss2226042422 | NC_000019.10:45364000:C:A | NC_000019.10:45364000:C:A | (self) |
| ss90986647, ss168249666, ss203766783, ss255702887, ss292184385, ss1698397677, ss3639120581, ss3639570969 | NC_000019.8:50559098:C:T | NC_000019.10:45364000:C:T | (self) |
| 76754168, 42501220, 30030609, 4181638, 4836815, 1759755, 45619552, 16360349, 19881664, 40330024, 10756548, 85937496, 42501220, 9385034, ss237690586, ss243893157, ss481066482, ss491162005, ss491549745, ss566009953, ss661876619, ss713520602, ss974506716, ss994342687, ss1067590910, ss1081932798, ss1363341050, ss1428414769, ss1578654916, ss1638050285, ss1681044318, ss1693672333, ss1937839742, ss1959870304, ss2029697012, ss2158240194, ss2702853336, ss2710884247, ss2744102044, ss2750222567, ss2963373202, ss2985144923, ss2985775734, ss3017547039, ss3021912231, ss3023072275, ss3352322364, ss3636425337, ss3646538507, ss3652338348, ss3653917686, ss3684292361, ss3743075484, ss3756115936, ss3788542346, ss3793450380, ss3798337265, ss3825302812, ss3825533048, ss3825547485, ss3825938577, ss3835482991, ss3841364241, ss3888313044, ss3938442158, ss3984157108, ss3986081252, ss3986802926, ss5227968189, ss5435111119, ss5623978385, ss5624091672, ss5662482932, ss5800223914, ss5840611556, ss5848495759, ss5953892331 | NC_000019.9:45867258:C:T | NC_000019.10:45364000:C:T | (self) |
| RCV000120789.8, RCV000990231.5, RCV001514552.7, RCV001657759.2, RCV001657760.2, 100736638, 541299536, 1702227, 37823471, 120505984, 291834123, 13747663900, ss1457609599, ss2226042422, ss3645523058, ss3650925770, ss3702853058, ss3821364085, ss3846870313, ss3981445470, ss5076288459, ss5236962882, ss5237672960, ss5307409333, ss5314453703, ss5499903082, ss5613210703, ss5786668880, ss5817639925, ss5852305234, ss5928270917 | NC_000019.10:45364000:C:T | NC_000019.10:45364000:C:T | (self) |
| ss12470200, ss19408393, ss21539926 | NT_011109.15:18135476:C:T | NC_000019.10:45364000:C:T | (self) |
| ss2419809, ss4385668, ss6903793, ss44162132, ss66803841, ss67196955, ss67585848, ss76869186, ss83877254, ss96309245, ss132770317, ss160462672 | NT_011109.16:18135476:C:T | NC_000019.10:45364000:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
174
citations for rs1799793
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 11606376 | Functional significance of XPD polymorphic variants: attenuated apoptosis in human lymphoblastoid cells with the XPD 312 Asp/Asp genotype. | Seker H et al. | 2001 | Cancer research |
| 15564288 | Polymorphisms in XPD and TP53 and mutation in human lung cancer. | Mechanic LE et al. | 2005 | Carcinogenesis |
| 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 |
| 17164380 | Polymorphisms in the DNA repair genes XPC, XPD, and XPG and risk of cutaneous melanoma: a case-control analysis. | Li C et al. | 2006 | Cancer epidemiology, biomarkers & prevention |
| 17299578 | Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis. | Kiyohara C et al. | 2007 | International journal of medical sciences |
| 17687452 | Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire. | Applebaum KM et al. | 2007 | Environmental health perspectives |
| 17705814 | Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain. | López-Cima MF et al. | 2007 | BMC cancer |
| 17975167 | Repair capacity for UV light induced DNA damage associated with risk of nonmelanoma skin cancer and tumor progression. | Wang LE et al. | 2007 | Clinical cancer research |
| 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 |
| 18544627 | Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk. | McWilliams RR et al. | 2008 | Cancer research |
| 18551366 | Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk. | Han J et al. | 2009 | Breast cancer research and treatment |
| 18635523 | Genotypes and haplotypes of ERCC1 and ERCC2/XPD genes predict levels of benzo[a]pyrene diol epoxide-induced DNA adducts in cultured primary lymphocytes from healthy individuals: a genotype-phenotype correlation analysis. | Zhao H et al. | 2008 | Carcinogenesis |
| 18701435 | Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. | Smith TR et al. | 2008 | Carcinogenesis |
| 18709642 | Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans. | Chang JS et al. | 2008 | International journal of cancer |
| 18711149 | Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma. | Lin J et al. | 2008 | Carcinogenesis |
| 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 |
| 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 |
| 19029193 | Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk. | Joshi AD et al. | 2009 | Carcinogenesis |
| 19055600 | Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosus. | Wan L et al. | 2009 | International journal of immunogenetics |
| 19109789 | Single nucleotide polymorphisms in DNA repair genes and prostate cancer risk. | Park JY et al. | 2009 | Methods in molecular biology (Clifton, N.J.) |
| 19270000 | Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway. | Pan J et al. | 2009 | Carcinogenesis |
| 19274602 | Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride. | Li Y et al. | 2009 | Biomarkers |
| 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 |
| 19442035 | Pharmacogenomics of platinum-based chemotherapy in NSCLC. | Hildebrandt MA et al. | 2009 | Expert opinion on drug metabolism & toxicology |
| 19706757 | Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer. | Stern MC et al. | 2009 | Cancer research |
| 19826048 | Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. | Akbari MR et al. | 2009 | Cancer research |
| 19846926 | Significant association of XPD codon 312 single nucleotide polymorphism with bladder cancer susceptibility in Taiwan. | Chang CH et al. | 2009 | Anticancer research |
| 19902366 | Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study. | Agalliu I et al. | 2010 | Cancer causes & control |
| 20003391 | ERCC2, ERCC1 polymorphisms and haplotypes, cooking oil fume and lung adenocarcinoma risk in Chinese non-smoking females. | Yin Z et al. | 2009 | Journal of experimental & clinical cancer research |
| 20003463 | Association between polymorphisms in DNA repair genes and survival of non-smoking female patients with lung adenocarcinoma. | Yin Z et al. | 2009 | BMC cancer |
| 20066159 | MMP9 but Not EGFR, MET, ERCC1, P16, and P-53 Is Associated with Response to Concomitant Radiotherapy, Cetuximab, and Weekly Cisplatin in Patients with Locally Advanced Head and Neck Cancer. | Fountzilas G et al. | 2009 | Journal of oncology |
| 20150366 | DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma. | Rajaraman P et al. | 2010 | Neuro-oncology |
| 20559012 | Polyunsaturated fatty acids, DNA repair single nucleotide polymorphisms and colorectal cancer in the Singapore Chinese Health Study. | Stern MC et al. | 2009 | Journal of nutrigenetics and nutrigenomics |
| 20564624 | Polymorphisms in ERCC2, MSH2, and OGG1 DNA repair genes and gallbladder cancer risk in a population of Northern India. | Srivastava K et al. | 2010 | Cancer |
| 20833606 | Genotoxic effects in swimmers exposed to disinfection by-products in indoor swimming pools. | Kogevinas M et al. | 2010 | Environmental health perspectives |
| 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 |
| 20935063 | Smoking and selected DNA repair gene polymorphisms in controls: systematic review and meta-analysis. | Hodgson ME et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20957144 | Interactions between exposure to environmental polycyclic aromatic hydrocarbons and DNA repair gene polymorphisms on bulky DNA adducts in human sperm. | Ji G et al. | 2010 | PloS one |
| 21075476 | No evidence of an association of ERCC1 and ERCC2 polymorphisms with clinical outcomes of platinum-based chemotherapies in non-small cell lung cancer: a meta-analysis. | Yin M et al. | 2011 | Lung cancer (Amsterdam, Netherlands) |
| 21195504 | Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk. | Qian B et al. | 2011 | Lung cancer (Amsterdam, Netherlands) |
| 21278243 | ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis. | Yin M et al. | 2011 | Clinical cancer research |
| 21283657 | Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes. | Srivastava K et al. | 2011 | PloS one |
| 21419115 | DNA repair gene ERCC2 polymorphisms and risk of squamous cell carcinoma of the head and neck. | Gugatschka M et al. | 2011 | Experimental and molecular pathology |
| 21514219 | Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. | Zhang B et al. | 2011 | The Lancet. Oncology |
| 21553048 | Analysis of XPD genetic polymorphisms of esophageal squamous cell carcinoma in a population of Yili Prefecture, in Xinjiang, China. | Huang CG et al. | 2012 | Molecular biology reports |
| 21586140 | Genetic variation in DNA-repair pathways and response to radiochemotherapy in esophageal adenocarcinoma: a retrospective cohort study of the Eastern Cooperative Oncology Group. | Yoon HH et al. | 2011 | BMC cancer |
| 21617750 | XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population. | Yousaf S et al. | 2011 | Molecular vision |
| 21700777 | Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer. | Smith TR et al. | 2011 | Carcinogenesis |
| 21708280 | Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. | Srivastava K et al. | 2011 | Mutation research |
| 21739480 | Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: a pathway-based analysis. | Dong J et al. | 2012 | Molecular carcinogenesis |
| 21741876 | Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk. | Anantharaman D et al. | 2011 | Oral oncology |
| 21750170 | Polymorphisms in nucleotide excision repair genes and endometrial cancer risk. | Doherty JA et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
| 21826087 | Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy. | Biason P et al. | 2012 | The pharmacogenomics journal |
| 21927616 | Genetic susceptibility to bladder cancer risk and outcome. | Gu J et al. | 2011 | Personalized medicine |
| 21974800 | DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome. | Reeves SG et al. | 2012 | Cancer epidemiology |
| 21989229 | DNA repair gene polymorphisms and risk of chronic atrophic gastritis: a case-control study. | Frank B et al. | 2011 | BMC cancer |
| 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 |
| 22336945 | A community-based study of nucleotide excision repair polymorphisms in relation to the risk of non-melanoma skin cancer. | Wheless L et al. | 2012 | The Journal of investigative dermatology |
| 22479369 | Effect of polymorphisms in XPD on clinical outcomes of platinum-based chemotherapy for Chinese non-small cell lung cancer patients. | Wu W et al. | 2012 | PloS one |
| 22493747 | Germ line variation in nucleotide excision repair genes and lung cancer risk in smokers. | Sakoda LC et al. | 2012 | International journal of molecular epidemiology and genetics |
| 22649665 | Association study of xenobiotic detoxication and repair genes with malignant brain tumors in children. | Salnikova LE et al. | 2010 | Acta naturae |
| 22761669 | Meta-analysis on pharmacogenetics of platinum-based chemotherapy in non small cell lung cancer (NSCLC) patients. | Yin JY et al. | 2012 | PloS one |
| 23028453 | The effect of XPD/ERCC2 polymorphisms on gastric cancer risk among different ethnicities: a systematic review and meta-analysis. | Xue H et al. | 2012 | PloS one |
| 23147699 | Association of genetic polymorphisms in ERCC1 and ERCC2/XPD with risk of chronic benzene poisoning in a Chinese occupational population. | Xiao S et al. | 2013 | Mutation research |
| 23202958 | Genetic variability in DNA repair proteins in age-related macular degeneration. | Blasiak J et al. | 2012 | International journal of molecular sciences |
| 23335232 | Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx. | Song X et al. | 2013 | International journal of cancer |
| 23482879 | DNA Repair Gene Polymorphisms in the Nucleotide Excision Repair Pathway and Lung Cancer Risk: A Meta-analysis. | Mei CR et al. | 2011 | Chinese journal of cancer research = Chung-kuo yen cheng yen chiu |
| 23661361 | The potential effect of gender in CYP1A1 and GSTM1 genotype-specific associations with pediatric brain tumor. | Salnikova LE et al. | 2013 | Tumour biology |
| 23680703 | A genetic variant in ERCC2 is associated with gastric cancer prognosis in a Chinese population. | Chu H et al. | 2013 | Mutagenesis |
| 23720673 | Molecular epidemiology of DNA repair gene polymorphisms and head and neck cancer. | Wang M et al. | 2013 | Journal of biomedical research |
| 23946381 | Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. | Ma X et al. | 2014 | Gut |
| 23962907 | ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated with cisplatin/5-FU-based neoadjuvant therapy. | Rumiato E et al. | 2013 | Pharmacogenetics and genomics |
| 24033266 | A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H et al. | 2013 | Clinical genetics |
| 24340057 | Genetic variations in radiation and chemotherapy drug action pathways and survival in locoregionally advanced nasopharyngeal carcinoma treated with chemoradiotherapy. | Liu H et al. | 2013 | PloS one |
| 24347488 | Xeroderma pigmentosum complementation group D (XPD) gene polymorphisms contribute to bladder cancer risk: a meta-analysis. | Li SX et al. | 2014 | Tumour biology |
| 24390613 | Association of single nucleotide polymorphisms in ERCC2 gene and their haplotypes with esophageal squamous cell carcinoma. | Zhang Y et al. | 2014 | Tumour biology |
| 24500421 | Association between DNA repair gene polymorphisms and risk of glioma: a systematic review and meta-analysis. | Adel Fahmideh M et al. | 2014 | Neuro-oncology |
| 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 |
| 24901479 | Ethnic background and genetic variation in the evaluation of cancer risk: a systematic review. | Jing L et al. | 2014 | PloS one |
| 24933002 | Common variants of xeroderma pigmentosum genes and prostate cancer risk. | Mirecka A et al. | 2014 | Gene |
| 25075970 | The associations between immunity-related genes and breast cancer prognosis in Korean women. | Choi J et al. | 2014 | PloS one |
| 25110414 | Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years. | Panczyk M et al. | 2014 | World journal of gastroenterology |
| 25117088 | Polymorphisms in the DNA repair gene ERCC2/XPD and breast cancer risk: a HapMap-based case-control study among Han Women in a Chinese less-developed area. | Wang T et al. | 2014 | Genetic testing and molecular biomarkers |
| 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 |
| 25231222 | Meat-derived carcinogens, genetic susceptibility and colorectal adenoma risk. | Ho V et al. | 2014 | Genes & nutrition |
| 25391773 | Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population. | Paszkowska-Szczur K et al. | 2015 | Molecular biology reports |
| 25452763 | Can pharmacogenetics explain efficacy and safety of cisplatin pharmacotherapy? | Roco A et al. | 2014 | Frontiers in genetics |
| 25491747 | Interactions between meat intake and genetic variation in relation to colorectal cancer. | Andersen V et al. | 2015 | Genes & nutrition |
| 25537147 | Polymorphisms in DNA repair genes and breast cancer risk in Russian population: a case-control study. | Shadrina AS et al. | 2016 | Clinical and experimental medicine |
| 25541996 | Effect of single nucleotide polymorphism Rs189037 in ATM gene on risk of lung cancer in Chinese: a case-control study. | Liu J et al. | 2014 | PloS one |
| 25542228 | Genetic polymorphisms of DNA repair pathways influence the response to chemotherapy and overall survival of gastric cancer. | Zhou J et al. | 2015 | Tumour biology |
| 25592234 | Genetic variability of DNA repair mechanisms and glutathione-S-transferase genes influences treatment outcome in osteosarcoma. | Goričar K et al. | 2015 | Cancer epidemiology |
| 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 |
| 25789018 | Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer. | Gómez-Díaz B et al. | 2015 | Oncology letters |
| 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 |
| 25962431 | Association of the Asp312Asn and Lys751Gln polymorphisms in the XPD gene with the risk of non-Hodgkin's lymphoma: evidence from a meta-analysis. | Chen S et al. | 2015 | Chinese journal of cancer |
| 26001533 | Polymorphisms in ERCC1 and ERCC2/XPD genes and carcinogen DNA adducts in human lung. | Lee MS et al. | 2015 | Lung cancer (Amsterdam, Netherlands) |
| 26054330 | Genetic risk of subsequent esophageal cancer in lymphoma and breast cancer long-term survival patients: a pilot study. | Boldrin E et al. | 2016 | The pharmacogenomics journal |
| 26159902 | DNA Repair Gene Polymorphisms in Relation to Non-Small Cell Lung Cancer Survival. | Su Y et al. | 2015 | Cellular physiology and biochemistry |
| 26254397 | Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotype to Gastric Cancer Risk in Taiwan. | Ji HX et al. | 2015 | Anticancer research |
| 26264164 | A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors. | Geng P et al. | 2016 | Molecular neurobiology |
| 26314858 | Influences of ERCC1, ERCC2, XRCC1, GSTP1, GSTT1, and MTHFR polymorphisms on clinical outcomes in gastric cancer patients treated with EOF chemotherapy. | Liu R et al. | 2016 | Tumour biology |
| 26339355 | Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma. | Sun Y et al. | 2015 | International journal of clinical and experimental pathology |
| 26345951 | Association between ERCC1 and ERCC2 gene polymorphisms and chemotherapy response and overall survival in osteosarcoma. | Cao ZH et al. | 2015 | Genetics and molecular research |
| 26400354 | Investigation of ERCC1 and ERCC2 gene polymorphisms and response to chemotherapy and overall survival in osteosarcoma. | Zhang Q et al. | 2015 | Genetics and molecular research |
| 26426637 | Predictive Value of Ercc1 and Xpd Polymorphisms for Clinical Outcomes of Patients Receiving Neoadjuvant Therapy: A Prisma-Compliant Meta-Analysis. | Qixing M et al. | 2015 | Medicine |
| 26436406 | Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma. | Wang MJ et al. | 2015 | Genetics and molecular research |
| 26475344 | CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer. | Melchardt T et al. | 2015 | BMC cancer |
| 26505449 | Influence of ERCC2 gene polymorphisms on the treatment outcome of osteosarcoma. | Liu ZF et al. | 2015 | Genetics and molecular research |
| 26627042 | ERCC2 polymorphisms and radiation-induced adverse effects on normal tissue: systematic review with meta-analysis and trial sequential analysis. | Song YZ et al. | 2015 | Radiation oncology (London, England) |
| 26649138 | The Cellular Response to Oxidatively Induced DNA Damage and Polymorphism of Some DNA Repair Genes Associated with Clinicopathological Features of Bladder Cancer. | Savina NV et al. | 2016 | Oxidative medicine and cellular longevity |
| 26772957 | A germline predictive signature of response to platinum chemotherapy in esophageal cancer. | Rumiato E et al. | 2016 | Translational research |
| 26872812 | The contributions of the tissue inhibitor of metalloproteinase-1 genotypes to triple negative breast cancer risk. | Chang WS et al. | 2016 | BioMedicine |
| 27053949 | Detecting gene-gene interactions using a permutation-based random forest method. | Li J et al. | 2016 | BioData mining |
| 27335251 | RRM1 *151A>T, RRM1 -756T>C, and RRM1 -585T>Gis associated with increased susceptibility of lung cancer in Chinese patients. | Xu XL et al. | 2016 | Cancer medicine |
| 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) |
| 27412115 | COX-2 rs689466, rs5275, and rs20417 polymorphisms and risk of head and neck squamous cell carcinoma: a meta-analysis of adjusted and unadjusted data. | Leng WD et al. | 2016 | BMC cancer |
| 27608007 | Pharmacogenetics Biomarkers and Their Specific Role in Neoadjuvant Chemoradiotherapy Treatments: An Exploratory Study on Rectal Cancer Patients. | Dreussi E et al. | 2016 | International journal of molecular sciences |
| 27754415 | Effect of Genetic Polymorphisms and Long-Term Tobacco Exposure on the Risk of Breast Cancer. | Verde Z et al. | 2016 | International journal of molecular sciences |
| 28206966 | Impact of DNA repair gene polymorphisms on the risk of biochemical recurrence after radiotherapy and overall survival in prostate cancer. | Zanusso C et al. | 2017 | Oncotarget |
| 28253266 | Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis. | Wu X et al. | 2017 | PloS one |
| 28388903 | Genetic polymorphisms in ERCC1 and ERCC2 genes are associated with response to chemotherapy in osteosarcoma patients among Chinese population: a meta-analysis. | Zhang H et al. | 2017 | World journal of surgical oncology |
| 28472728 | New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome. | Santiago SP et al. | 2017 | Leukemia research |
| 28474168 | Haplotype analysis on relationship of ERCC2 and ERCC3 gene polymorphisms with osteosarcoma risk in Chinese young population. | Xu Q et al. | 2017 | Mammalian genome |
| 28514298 | Association between common polymorphisms in ERCC gene and glioma risk: A meta-analysis of 15 studies. | Qian T et al. | 2017 | Medicine |
| 28520216 | Evaluation of Prediction of Polymorphisms of DNA Repair Genes on the Efficacy of Platinum-Based Chemotherapy in Patients With Non-Small Cell Lung Cancer: A Network Meta-Analysis. | Yu SN et al. | 2017 | Journal of cellular biochemistry |
| 28610420 | Genetic Association between ERCC2, NBN, RAD51 Gene Variants and Osteosarcoma Risk: a Systematic Review and Meta-Analysis. | Mehdinejad M et al. | 2017 | Asian Pacific journal of cancer prevention |
| 28652652 | Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update. | Sharma A et al. | 2017 | World journal of gastroenterology |
| 28679691 | Metastatic triple-negative breast cancer patient with TP53 tumor mutation experienced 11 months progression-free survival on bortezomib monotherapy without adverse events after ending standard treatments with grade 3 adverse events. | Meißner T et al. | 2017 | Cold Spring Harbor molecular case studies |
| 28707579 | The Involvement of ERCC2/XPD and ERCC6/CSB Wild Type Alleles in Protection Against Aging and Cancer. | Savina NV et al. | 2018 | Current aging science |
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Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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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.
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.