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.
rs17655
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr13:102875652 (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
- G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.319853 (84662/264690, TOPMED)C=0.277591 (69697/251078, GnomAD_exome)C=0.304189 (42587/140002, GnomAD) (+ 24 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
BIVM-ERCC5 : Missense VariantERCC5 : Missense Variant
- Publications
- 94 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 | 115926 | G=0.755525 | C=0.244475 |
| European | Sub | 98136 | G=0.77879 | C=0.22121 |
| African | Sub | 4374 | G=0.5453 | C=0.4547 |
| African Others | Sub | 174 | G=0.506 | C=0.494 |
| African American | Sub | 4200 | G=0.5469 | C=0.4531 |
| Asian | Sub | 3326 | G=0.4549 | C=0.5451 |
| East Asian | Sub | 2672 | G=0.4431 | C=0.5569 |
| Other Asian | Sub | 654 | G=0.503 | C=0.497 |
| Latin American 1 | Sub | 790 | G=0.656 | C=0.344 |
| Latin American 2 | Sub | 944 | G=0.662 | C=0.338 |
| South Asian | Sub | 274 | G=0.745 | C=0.255 |
| Other | Sub | 8082 | G=0.7316 | C=0.2684 |
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 | G=0.680147 | C=0.319853 |
| gnomAD - Exomes | Global | Study-wide | 251078 | G=0.722409 | C=0.277591 |
| gnomAD - Exomes | European | Sub | 135140 | G=0.775766 | C=0.224234 |
| gnomAD - Exomes | Asian | Sub | 48968 | G=0.67283 | C=0.32717 |
| gnomAD - Exomes | American | Sub | 34546 | G=0.66977 | C=0.33023 |
| gnomAD - Exomes | African | Sub | 16232 | G=0.53733 | C=0.46267 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10072 | G=0.72260 | C=0.27740 |
| gnomAD - Exomes | Other | Sub | 6120 | G=0.7286 | C=0.2714 |
| gnomAD - Genomes | Global | Study-wide | 140002 | G=0.695811 | C=0.304189 |
| gnomAD - Genomes | European | Sub | 75838 | G=0.78105 | C=0.21895 |
| gnomAD - Genomes | African | Sub | 41928 | G=0.54906 | C=0.45094 |
| gnomAD - Genomes | American | Sub | 13638 | G=0.70868 | C=0.29132 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | G=0.7286 | C=0.2714 |
| gnomAD - Genomes | East Asian | Sub | 3126 | G=0.5099 | C=0.4901 |
| gnomAD - Genomes | Other | Sub | 2152 | G=0.6891 | C=0.3109 |
| ExAC | Global | Study-wide | 121182 | G=0.722318 | C=0.277682 |
| ExAC | Europe | Sub | 73210 | G=0.77160 | C=0.22840 |
| ExAC | Asian | Sub | 25134 | G=0.67840 | C=0.32160 |
| ExAC | American | Sub | 11548 | G=0.66245 | C=0.33755 |
| ExAC | African | Sub | 10382 | G=0.54421 | C=0.45579 |
| ExAC | Other | Sub | 908 | G=0.762 | C=0.238 |
| Allele Frequency Aggregator | Total | Global | 115926 | G=0.755525 | C=0.244475 |
| Allele Frequency Aggregator | European | Sub | 98136 | G=0.77879 | C=0.22121 |
| Allele Frequency Aggregator | Other | Sub | 8082 | G=0.7316 | C=0.2684 |
| Allele Frequency Aggregator | African | Sub | 4374 | G=0.5453 | C=0.4547 |
| Allele Frequency Aggregator | Asian | Sub | 3326 | G=0.4549 | C=0.5451 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 944 | G=0.662 | C=0.338 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 790 | G=0.656 | C=0.344 |
| Allele Frequency Aggregator | South Asian | Sub | 274 | G=0.745 | C=0.255 |
| The PAGE Study | Global | Study-wide | 78698 | G=0.60406 | C=0.39594 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | G=0.55668 | C=0.44332 |
| The PAGE Study | Mexican | Sub | 10808 | G=0.67746 | C=0.32254 |
| The PAGE Study | Asian | Sub | 8318 | G=0.4730 | C=0.5270 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.6903 | C=0.3097 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.5953 | C=0.4047 |
| The PAGE Study | Cuban | Sub | 4230 | G=0.7189 | C=0.2811 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.6418 | C=0.3582 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.6547 | C=0.3453 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.6872 | C=0.3128 |
| The PAGE Study | NativeAmerican | Sub | 1258 | G=0.7178 | C=0.2822 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.758 | C=0.242 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.43301 | C=0.56699 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.44057 | C=0.55943 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | G=0.69422 | C=0.30578 |
| GO Exome Sequencing Project | European American | Sub | 8600 | G=0.7712 | C=0.2288 |
| GO Exome Sequencing Project | African American | Sub | 4406 | G=0.5440 | C=0.4560 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.6371 | C=0.3629 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.5056 | C=0.4944 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.7504 | C=0.2496 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.7479 | C=0.2521 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.5350 | C=0.4650 |
| 1000Genomes_30x | American | Sub | 980 | G=0.716 | C=0.284 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.6386 | C=0.3614 |
| 1000Genomes | African | Sub | 1322 | G=0.4992 | C=0.5008 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.5377 | C=0.4623 |
| 1000Genomes | Europe | Sub | 1006 | G=0.7505 | C=0.2495 |
| 1000Genomes | South Asian | Sub | 978 | G=0.752 | C=0.248 |
| 1000Genomes | American | Sub | 694 | G=0.729 | C=0.271 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.7850 | C=0.2150 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.7901 | C=0.2099 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.7934 | C=0.2066 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.4437 | C=0.5563 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.4198 | C=0.5802 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.782 | C=0.218 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.472 | C=0.528 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.472 | C=0.528 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 616 | G=0.523 | C=0.477 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.812 | C=0.188 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.728 | C=0.272 |
| SGDP_PRJ | Global | Study-wide | 338 | G=0.358 | C=0.642 |
| HapMap | Global | Study-wide | 328 | G=0.564 | C=0.436 |
| HapMap | African | Sub | 120 | G=0.458 | C=0.542 |
| HapMap | American | Sub | 120 | G=0.733 | C=0.267 |
| HapMap | Asian | Sub | 88 | G=0.48 | C=0.52 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.727 | C=0.273 |
| Qatari | Global | Study-wide | 216 | G=0.634 | C=0.366 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.78 | C=0.23 |
| Siberian | Global | Study-wide | 34 | G=0.32 | C=0.68 |
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 13 | NC_000013.11:g.102875652G>C |
| GRCh37.p13 chr 13 | NC_000013.10:g.103528002G>C |
| ERCC5 RefSeqGene (LRG_464) | NG_007146.1:g.34829G>C |
Gene: ERCC5, ERCC excision repair 5, endonuclease
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ERCC5 transcript | NM_000123.4:c.3310G>C | D [GAT] > H [CAT] | Coding Sequence Variant |
| DNA excision repair protein ERCC-5 | NP_000114.3:p.Asp1104His | D (Asp) > H (His) | Missense Variant |
Gene: BIVM-ERCC5, BIVM-ERCC5 readthrough
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| BIVM-ERCC5 transcript | NM_001204425.2:c.4672G>C | D [GAT] > H [CAT] | Coding Sequence Variant |
| BIVM-ERCC5 protein |
NP_001191354.2:p.Asp1558H… NP_001191354.2:p.Asp1558His |
D (Asp) > 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: C (allele ID:
134457
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000116992.9 | not specified | Benign |
| RCV000613326.8 | Xeroderma pigmentosum, group G | Benign |
| RCV001657728.3 | Cerebrooculofacioskeletal syndrome 3 | Benign |
| RCV001719862.5 | not provided | 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 | G= | C |
|---|---|---|
| GRCh38.p14 chr 13 | NC_000013.11:g.102875652= | NC_000013.11:g.102875652G>C |
| GRCh37.p13 chr 13 | NC_000013.10:g.103528002= | NC_000013.10:g.103528002G>C |
| ERCC5 RefSeqGene (LRG_464) | NG_007146.1:g.34829= | NG_007146.1:g.34829G>C |
| ERCC5 transcript | NM_000123.4:c.3310= | NM_000123.4:c.3310G>C |
| ERCC5 transcript | NM_000123.3:c.3310= | NM_000123.3:c.3310G>C |
| BIVM-ERCC5 transcript | NM_001204425.2:c.4672= | NM_001204425.2:c.4672G>C |
| BIVM-ERCC5 transcript | NM_001204425.1:c.4672= | NM_001204425.1:c.4672G>C |
| DNA excision repair protein ERCC-5 | NP_000114.3:p.Asp1104= | NP_000114.3:p.Asp1104His |
| BIVM-ERCC5 protein | NP_001191354.2:p.Asp1558= | NP_001191354.2:p.Asp1558His |
| DNA repair protein complementing XP-G cells | NP_000114.2:p.Asp1104= | NP_000114.2:p.Asp1104His |
| BIVM-ERCC5 protein | NP_001191354.1:p.Asp1558= | NP_001191354.1:p.Asp1558His |
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#.
171 SubSNP,
27 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | UWGC | ss20269 | Dec 09, 1999 (63) |
| 2 | LEE | ss1520539 | Oct 04, 2000 (86) |
| 3 | UWGC | ss2924028 | Sep 28, 2001 (100) |
| 4 | WIAF-CSNP | ss3172481 | Aug 15, 2001 (98) |
| 5 | CGAP-GAI | ss4322677 | Jan 04, 2002 (102) |
| 6 | LEE | ss4412321 | May 29, 2002 (106) |
| 7 | YUSUKE | ss5012002 | Aug 28, 2002 (108) |
| 8 | SNP500CANCER | ss5586520 | Mar 31, 2003 (113) |
| 9 | EGP_SNPS | ss5605326 | Dec 12, 2002 (110) |
| 10 | SSAHASNP | ss21082911 | Apr 05, 2004 (121) |
| 11 | PERLEGEN | ss23280293 | Sep 20, 2004 (123) |
| 12 | ABI | ss43495843 | Mar 13, 2006 (126) |
| 13 | APPLERA_GI | ss48425612 | Mar 13, 2006 (126) |
| 14 | ILLUMINA | ss65725834 | Oct 16, 2006 (127) |
| 15 | EGP_SNPS | ss66861736 | Dec 01, 2006 (127) |
| 16 | PERLEGEN | ss69145872 | May 17, 2007 (127) |
| 17 | AFFY | ss74811238 | Aug 16, 2007 (128) |
| 18 | CGM_KYOTO | ss76861513 | Dec 07, 2007 (129) |
| 19 | CANCER-GENOME | ss86347456 | Mar 23, 2008 (129) |
| 20 | BCMHGSC_JDW | ss89826429 | Mar 24, 2008 (129) |
| 21 | HUMANGENOME_JCVI | ss97189636 | Feb 06, 2009 (130) |
| 22 | BGI | ss106363880 | Feb 06, 2009 (130) |
| 23 | 1000GENOMES | ss108059890 | Jan 22, 2009 (130) |
| 24 | 1000GENOMES | ss115220591 | Jan 25, 2009 (130) |
| 25 | ILLUMINA-UK | ss118976903 | Feb 15, 2009 (130) |
| 26 | ENSEMBL | ss132181475 | Dec 01, 2009 (131) |
| 27 | ENSEMBL | ss133800018 | Dec 01, 2009 (131) |
| 28 | SEATTLESEQ | ss159728456 | Dec 01, 2009 (131) |
| 29 | ILLUMINA | ss160451638 | Dec 01, 2009 (131) |
| 30 | COMPLETE_GENOMICS | ss170643267 | Jul 04, 2010 (132) |
| 31 | BUSHMAN | ss199649036 | Jul 04, 2010 (132) |
| 32 | BCM-HGSC-SUB | ss208646166 | Jul 04, 2010 (132) |
| 33 | 1000GENOMES | ss226387908 | Jul 14, 2010 (132) |
| 34 | 1000GENOMES | ss236408287 | Jul 15, 2010 (132) |
| 35 | 1000GENOMES | ss242869223 | Jul 15, 2010 (132) |
| 36 | GMI | ss281863905 | May 04, 2012 (137) |
| 37 | GMI | ss286777998 | Apr 25, 2013 (138) |
| 38 | PJP | ss291524205 | May 09, 2011 (134) |
| 39 | NHLBI-ESP | ss342379873 | May 09, 2011 (134) |
| 40 | ILLUMINA | ss480265837 | May 04, 2012 (137) |
| 41 | ILLUMINA | ss480276820 | May 04, 2012 (137) |
| 42 | ILLUMINA | ss481022434 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss484930848 | May 04, 2012 (137) |
| 44 | 1000GENOMES | ss491062486 | May 04, 2012 (137) |
| 45 | EXOME_CHIP | ss491480820 | May 04, 2012 (137) |
| 46 | CLINSEQ_SNP | ss491681967 | May 04, 2012 (137) |
| 47 | ILLUMINA | ss535872494 | Sep 08, 2015 (146) |
| 48 | TISHKOFF | ss563888039 | Apr 25, 2013 (138) |
| 49 | SSMP | ss659532818 | Apr 25, 2013 (138) |
| 50 | ILLUMINA | ss778718121 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss780698066 | Sep 08, 2015 (146) |
| 52 | ILLUMINA | ss782911737 | Sep 08, 2015 (146) |
| 53 | ILLUMINA | ss783372139 | Sep 08, 2015 (146) |
| 54 | ILLUMINA | ss783874936 | Sep 08, 2015 (146) |
| 55 | ILLUMINA | ss832166702 | Sep 08, 2015 (146) |
| 56 | ILLUMINA | ss834177467 | Sep 08, 2015 (146) |
| 57 | JMKIDD_LAB | ss974487276 | Aug 21, 2014 (142) |
| 58 | EVA-GONL | ss990794385 | Aug 21, 2014 (142) |
| 59 | JMKIDD_LAB | ss1067542582 | Aug 21, 2014 (142) |
| 60 | JMKIDD_LAB | ss1079392325 | Aug 21, 2014 (142) |
| 61 | 1000GENOMES | ss1349694215 | Aug 21, 2014 (142) |
| 62 | DDI | ss1427311139 | Apr 01, 2015 (144) |
| 63 | CLINVAR | ss1457609655 | Nov 23, 2014 (142) |
| 64 | EVA_GENOME_DK | ss1577035925 | Apr 01, 2015 (144) |
| 65 | EVA_FINRISK | ss1584087801 | Apr 01, 2015 (144) |
| 66 | EVA_UK10K_ALSPAC | ss1631059036 | Apr 01, 2015 (144) |
| 67 | EVA_UK10K_TWINSUK | ss1674053069 | Apr 01, 2015 (144) |
| 68 | EVA_EXAC | ss1691345766 | Apr 01, 2015 (144) |
| 69 | EVA_DECODE | ss1694786436 | Apr 01, 2015 (144) |
| 70 | EVA_MGP | ss1711362303 | Apr 01, 2015 (144) |
| 71 | ILLUMINA | ss1752090367 | Sep 08, 2015 (146) |
| 72 | ILLUMINA | ss1752090368 | Sep 08, 2015 (146) |
| 73 | HAMMER_LAB | ss1807770928 | Sep 08, 2015 (146) |
| 74 | ILLUMINA | ss1917885072 | Feb 12, 2016 (147) |
| 75 | WEILL_CORNELL_DGM | ss1934156153 | Feb 12, 2016 (147) |
| 76 | ILLUMINA | ss1946367971 | Feb 12, 2016 (147) |
| 77 | ILLUMINA | ss1959525623 | Feb 12, 2016 (147) |
| 78 | GENOMED | ss1967881469 | Jul 19, 2016 (147) |
| 79 | JJLAB | ss2027851871 | Sep 14, 2016 (149) |
| 80 | USC_VALOUEV | ss2156218968 | Dec 20, 2016 (150) |
| 81 | HUMAN_LONGEVITY | ss2199362117 | Dec 20, 2016 (150) |
| 82 | SYSTEMSBIOZJU | ss2628414119 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss2633107991 | Nov 08, 2017 (151) |
| 84 | GRF | ss2700615936 | Nov 08, 2017 (151) |
| 85 | ILLUMINA | ss2710791748 | Nov 08, 2017 (151) |
| 86 | GNOMAD | ss2740501879 | Nov 08, 2017 (151) |
| 87 | GNOMAD | ss2749072774 | Nov 08, 2017 (151) |
| 88 | GNOMAD | ss2923863483 | Nov 08, 2017 (151) |
| 89 | AFFY | ss2985010351 | Nov 08, 2017 (151) |
| 90 | AFFY | ss2985646478 | Nov 08, 2017 (151) |
| 91 | SWEGEN | ss3011627891 | Nov 08, 2017 (151) |
| 92 | ILLUMINA | ss3021536416 | Nov 08, 2017 (151) |
| 93 | BIOINF_KMB_FNS_UNIBA | ss3027747845 | Nov 08, 2017 (151) |
| 94 | CSHL | ss3350636984 | Nov 08, 2017 (151) |
| 95 | ILLUMINA | ss3627143281 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3627143282 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3631108823 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3633063658 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3633766483 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3634560250 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3634560251 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3635456263 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3636249100 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3637207368 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3640267579 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3640267580 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3644621065 | Oct 12, 2018 (152) |
| 108 | OMUKHERJEE_ADBS | ss3646455423 | Oct 12, 2018 (152) |
| 109 | URBANLAB | ss3650124597 | Oct 12, 2018 (152) |
| 110 | ILLUMINA | ss3651925997 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3653781918 | Oct 12, 2018 (152) |
| 112 | EGCUT_WGS | ss3678916363 | Jul 13, 2019 (153) |
| 113 | EVA_DECODE | ss3696028140 | Jul 13, 2019 (153) |
| 114 | ILLUMINA | ss3725419292 | Jul 13, 2019 (153) |
| 115 | ACPOP | ss3740083667 | Jul 13, 2019 (153) |
| 116 | ILLUMINA | ss3744407854 | Jul 13, 2019 (153) |
| 117 | ILLUMINA | ss3744860885 | Jul 13, 2019 (153) |
| 118 | ILLUMINA | ss3744860886 | Jul 13, 2019 (153) |
| 119 | EVA | ss3751919010 | Jul 13, 2019 (153) |
| 120 | PAGE_CC | ss3771766333 | Jul 13, 2019 (153) |
| 121 | ILLUMINA | ss3772359917 | Jul 13, 2019 (153) |
| 122 | ILLUMINA | ss3772359918 | Jul 13, 2019 (153) |
| 123 | PACBIO | ss3787567722 | Jul 13, 2019 (153) |
| 124 | PACBIO | ss3792619074 | Jul 13, 2019 (153) |
| 125 | PACBIO | ss3797502927 | Jul 13, 2019 (153) |
| 126 | KHV_HUMAN_GENOMES | ss3817249712 | Jul 13, 2019 (153) |
| 127 | EVA | ss3824821241 | Apr 27, 2020 (154) |
| 128 | EVA | ss3825839451 | Apr 27, 2020 (154) |
| 129 | EVA | ss3833743675 | Apr 27, 2020 (154) |
| 130 | EVA | ss3840462202 | Apr 27, 2020 (154) |
| 131 | EVA | ss3845949971 | Apr 27, 2020 (154) |
| 132 | SGDP_PRJ | ss3880755608 | Apr 27, 2020 (154) |
| 133 | KRGDB | ss3929685799 | Apr 27, 2020 (154) |
| 134 | KOGIC | ss3974261720 | Apr 27, 2020 (154) |
| 135 | FSA-LAB | ss3984049481 | Apr 26, 2021 (155) |
| 136 | EVA | ss3984685944 | Apr 26, 2021 (155) |
| 137 | EVA | ss3986606476 | Apr 26, 2021 (155) |
| 138 | EVA | ss4017652303 | Apr 26, 2021 (155) |
| 139 | TOPMED | ss4959583586 | Apr 26, 2021 (155) |
| 140 | TOMMO_GENOMICS | ss5211670165 | Apr 26, 2021 (155) |
| 141 | EVA | ss5236853448 | Apr 26, 2021 (155) |
| 142 | CPQ_GEN_INCA | ss5236853936 | Apr 26, 2021 (155) |
| 143 | CPQ_GEN_INCA | ss5236857050 | Apr 26, 2021 (155) |
| 144 | CPQ_GEN_INCA | ss5236857051 | Apr 26, 2021 (155) |
| 145 | CPQ_GEN_INCA | ss5236857052 | Apr 26, 2021 (155) |
| 146 | EVA | ss5236914135 | Apr 26, 2021 (155) |
| 147 | EVA | ss5237661870 | Oct 16, 2022 (156) |
| 148 | 1000G_HIGH_COVERAGE | ss5295026016 | Oct 16, 2022 (156) |
| 149 | TRAN_CS_UWATERLOO | ss5314438204 | Oct 16, 2022 (156) |
| 150 | EVA | ss5315710144 | Oct 16, 2022 (156) |
| 151 | EVA | ss5413131314 | Oct 16, 2022 (156) |
| 152 | HUGCELL_USP | ss5489260565 | Oct 16, 2022 (156) |
| 153 | EVA | ss5511129580 | Oct 16, 2022 (156) |
| 154 | 1000G_HIGH_COVERAGE | ss5594709682 | Oct 16, 2022 (156) |
| 155 | EVA | ss5623961037 | Oct 16, 2022 (156) |
| 156 | EVA | ss5624042079 | Oct 16, 2022 (156) |
| 157 | SANFORD_IMAGENETICS | ss5624333857 | Oct 16, 2022 (156) |
| 158 | SANFORD_IMAGENETICS | ss5655524697 | Oct 16, 2022 (156) |
| 159 | TOMMO_GENOMICS | ss5764005560 | Oct 16, 2022 (156) |
| 160 | EVA | ss5799450470 | Oct 16, 2022 (156) |
| 161 | EVA | ss5799909087 | Oct 16, 2022 (156) |
| 162 | EVA | ss5800184993 | Oct 16, 2022 (156) |
| 163 | YY_MCH | ss5814441322 | Oct 16, 2022 (156) |
| 164 | EVA | ss5839989361 | Oct 16, 2022 (156) |
| 165 | EVA | ss5847708287 | Oct 16, 2022 (156) |
| 166 | EVA | ss5848376141 | Oct 16, 2022 (156) |
| 167 | EVA | ss5850891851 | Oct 16, 2022 (156) |
| 168 | EVA | ss5926586795 | Oct 16, 2022 (156) |
| 169 | EVA | ss5936189902 | Oct 16, 2022 (156) |
| 170 | EVA | ss5946969817 | Oct 16, 2022 (156) |
| 171 | EVA | ss5979429105 | Oct 16, 2022 (156) |
| 172 | 1000Genomes | NC_000013.10 - 103528002 | Oct 12, 2018 (152) |
| 173 | 1000Genomes_30x | NC_000013.11 - 102875652 | Oct 16, 2022 (156) |
| 174 | The Avon Longitudinal Study of Parents and Children | NC_000013.10 - 103528002 | Oct 12, 2018 (152) |
| 175 | Genetic variation in the Estonian population | NC_000013.10 - 103528002 | Oct 12, 2018 (152) |
| 176 | ExAC | NC_000013.10 - 103528002 | Oct 12, 2018 (152) |
| 177 | FINRISK | NC_000013.10 - 103528002 | Apr 27, 2020 (154) |
| 178 | The Danish reference pan genome | NC_000013.10 - 103528002 | Apr 27, 2020 (154) |
| 179 | gnomAD - Genomes | NC_000013.11 - 102875652 | Apr 26, 2021 (155) |
| 180 | gnomAD - Exomes | NC_000013.10 - 103528002 | Jul 13, 2019 (153) |
| 181 | GO Exome Sequencing Project | NC_000013.10 - 103528002 | Oct 12, 2018 (152) |
| 182 | Genome of the Netherlands Release 5 | NC_000013.10 - 103528002 | Apr 27, 2020 (154) |
| 183 | HapMap | NC_000013.11 - 102875652 | Apr 27, 2020 (154) |
| 184 | KOREAN population from KRGDB | NC_000013.10 - 103528002 | Apr 27, 2020 (154) |
| 185 | Korean Genome Project | NC_000013.11 - 102875652 | Apr 27, 2020 (154) |
| 186 | Medical Genome Project healthy controls from Spanish population | NC_000013.10 - 103528002 | Apr 27, 2020 (154) |
| 187 | Northern Sweden | NC_000013.10 - 103528002 | Jul 13, 2019 (153) |
| 188 | The PAGE Study | NC_000013.11 - 102875652 | Jul 13, 2019 (153) |
| 189 | CNV burdens in cranial meningiomas | NC_000013.10 - 103528002 | Apr 26, 2021 (155) |
| 190 | Qatari | NC_000013.10 - 103528002 | Apr 27, 2020 (154) |
| 191 | SGDP_PRJ | NC_000013.10 - 103528002 | Apr 27, 2020 (154) |
| 192 | Siberian | NC_000013.10 - 103528002 | Apr 27, 2020 (154) |
| 193 | 8.3KJPN | NC_000013.10 - 103528002 | Apr 26, 2021 (155) |
| 194 | 14KJPN | NC_000013.11 - 102875652 | Oct 16, 2022 (156) |
| 195 | TopMed | NC_000013.11 - 102875652 | Apr 26, 2021 (155) |
| 196 | UK 10K study - Twins | NC_000013.10 - 103528002 | Oct 12, 2018 (152) |
| 197 | A Vietnamese Genetic Variation Database | NC_000013.10 - 103528002 | Jul 13, 2019 (153) |
| 198 | ALFA | NC_000013.11 - 102875652 | Apr 26, 2021 (155) |
| 199 | ClinVar | RCV000116992.9 | Oct 16, 2022 (156) |
| 200 | ClinVar | RCV000613326.8 | Oct 16, 2022 (156) |
| 201 | ClinVar | RCV001657728.3 | Oct 16, 2022 (156) |
| 202 | ClinVar | RCV001719862.5 | Oct 16, 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) |
|---|---|
| rs3188002 | Jul 03, 2002 (106) |
| rs3825521 | Oct 08, 2002 (108) |
| rs16960665 | Oct 08, 2004 (123) |
| rs52825398 | Sep 21, 2007 (128) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss89826429, ss108059890, ss115220591, ss118976903, ss160451638, ss170643267, ss199649036, ss208646166, ss281863905, ss286777998, ss291524205, ss480265837, ss491681967, ss1694786436 | NC_000013.9:102326002:G:C | NC_000013.11:102875651:G:C | (self) |
| 62625030, 34799163, 24654611, 1679851, 84262, 3461281, 9749123, 1278611, 15536964, 36863193, 478063, 13368532, 235450, 16198083, 32772588, 8735322, 69639472, 34799163, 7736078, ss226387908, ss236408287, ss242869223, ss342379873, ss480276820, ss481022434, ss484930848, ss491062486, ss491480820, ss535872494, ss563888039, ss659532818, ss778718121, ss780698066, ss782911737, ss783372139, ss783874936, ss832166702, ss834177467, ss974487276, ss990794385, ss1067542582, ss1079392325, ss1349694215, ss1427311139, ss1577035925, ss1584087801, ss1631059036, ss1674053069, ss1691345766, ss1711362303, ss1752090367, ss1752090368, ss1807770928, ss1917885072, ss1934156153, ss1946367971, ss1959525623, ss1967881469, ss2027851871, ss2156218968, ss2628414119, ss2633107991, ss2700615936, ss2710791748, ss2740501879, ss2749072774, ss2923863483, ss2985010351, ss2985646478, ss3011627891, ss3021536416, ss3350636984, ss3627143281, ss3627143282, ss3631108823, ss3633063658, ss3633766483, ss3634560250, ss3634560251, ss3635456263, ss3636249100, ss3637207368, ss3640267579, ss3640267580, ss3644621065, ss3646455423, ss3651925997, ss3653781918, ss3678916363, ss3740083667, ss3744407854, ss3744860885, ss3744860886, ss3751919010, ss3772359917, ss3772359918, ss3787567722, ss3792619074, ss3797502927, ss3824821241, ss3825839451, ss3833743675, ss3840462202, ss3880755608, ss3929685799, ss3984049481, ss3984685944, ss3986606476, ss4017652303, ss5211670165, ss5236853936, ss5236857050, ss5236857051, ss5236857052, ss5315710144, ss5413131314, ss5511129580, ss5623961037, ss5624042079, ss5624333857, ss5655524697, ss5799450470, ss5799909087, ss5800184993, ss5839989361, ss5847708287, ss5848376141, ss5936189902, ss5946969817, ss5979429105 | NC_000013.10:103528001:G:C | NC_000013.11:102875651:G:C | (self) |
| RCV000116992.9, RCV000613326.8, RCV001657728.3, RCV001719862.5, 82235617, 441630352, 1075699, 30639721, 987802, 97842664, 175129244, 2635221920, ss1457609655, ss2199362117, ss3027747845, ss3650124597, ss3696028140, ss3725419292, ss3771766333, ss3817249712, ss3845949971, ss3974261720, ss4959583586, ss5236853448, ss5236914135, ss5237661870, ss5295026016, ss5314438204, ss5489260565, ss5594709682, ss5764005560, ss5814441322, ss5850891851, ss5926586795 | NC_000013.11:102875651:G:C | NC_000013.11:102875651:G:C | (self) |
| ss20269, ss1520539, ss2924028, ss3172481, ss4322677, ss4412321, ss5012002, ss5586520, ss5605326, ss21082911, ss23280293, ss43495843, ss48425612, ss65725834, ss66861736, ss69145872, ss74811238, ss76861513, ss86347456, ss97189636, ss106363880, ss132181475, ss133800018, ss159728456 | NT_009952.14:16617677:G:C | NC_000013.11:102875651:G:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
94
citations for rs17655
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 16026601 | Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method. | Xie Q et al. | 2005 | BMC bioinformatics |
| 16094634 | Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus. | Cui Y et al. | 2006 | International journal of cancer |
| 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 |
| 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 |
| 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 |
| 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 |
| 18767034 | Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists. | Rajaraman P et al. | 2008 | International journal of cancer |
| 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 |
| 18838045 | Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype. | Tyson J et al. | 2009 | The British journal of nutrition |
| 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 |
| 19109789 | Single nucleotide polymorphisms in DNA repair genes and prostate cancer risk. | Park JY et al. | 2009 | Methods in molecular biology (Clifton, N.J.) |
| 19124499 | Association and interactions between DNA repair gene polymorphisms and adult glioma. | Liu Y et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19270000 | Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway. | Pan J et al. | 2009 | Carcinogenesis |
| 19318434 | Associations between polymorphisms in DNA repair genes and glioblastoma. | McKean-Cowdin R et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19442035 | Pharmacogenomics of platinum-based chemotherapy in NSCLC. | Hildebrandt MA et al. | 2009 | Expert opinion on drug metabolism & toxicology |
| 19661089 | Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China. | Hussain SK et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 20141440 | Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients. | Strom SS et al. | 2010 | Leukemia & lymphoma |
| 20150366 | DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma. | Rajaraman P et al. | 2010 | Neuro-oncology |
| 21426550 | The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development. | Rouissi K et al. | 2011 | BMC cancer |
| 21435719 | Impact on response and survival of DNA repair single nucleotide polymorphisms in relapsed or refractory multiple myeloma patients treated with thalidomide. | Cibeira MT et al. | 2011 | Leukemia research |
| 21561390 | Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population. | Canbay E et al. | 2011 | Current medical research and opinion |
| 21700777 | Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer. | Smith TR et al. | 2011 | Carcinogenesis |
| 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 |
| 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 |
| 22742565 | Germline prognostic markers for urinary bladder cancer: obstacles and opportunities. | Chang DW et al. | 2012 | Urologic oncology |
| 22848513 | Polymorphisms in the ERCC5 gene and risk of esophageal squamous cell carcinoma (ESCC) in Eastern Chinese populations. | Zhu ML et al. | 2012 | PloS one |
| 22969958 | Genetic polymorphisms in key DNA repair genes and risk of head and neck cancer in a Chinese population. | Yuan H et al. | 2012 | Experimental and therapeutic medicine |
| 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 |
| 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 |
| 23982724 | The role of CCNH Val270Ala (rs2230641) and other nucleotide excision repair polymorphisms in individual susceptibility to well-differentiated thyroid cancer. | Santos LS et al. | 2013 | Oncology reports |
| 24098683 | Non-Hodgkin lymphoma risk and variants in genes controlling lymphocyte development. | Schuetz JM et al. | 2013 | PloS one |
| 24491308 | Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men. | Cartwright R et al. | 2014 | European urology |
| 24563277 | Association of single nucleotide polymorphisms of nucleotide excision repair genes with laryngeal cancer risk and interaction with cigarette smoking and alcohol drinking. | Li X et al. | 2014 | Tumour biology |
| 24582975 | Laryngeal cancer risk and common single nucleotide polymorphisms in nucleotide excision repair pathway genes ERCC1, ERCC2, ERCC3, ERCC4, ERCC5 and XPA. | Lu B et al. | 2014 | Gene |
| 24615519 | Genetic polymorphisms in XPG could predict clinical outcome of platinum-based chemotherapy for advanced non-small cell lung cancer. | Hu W et al. | 2014 | Tumour biology |
| 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 |
| 24904630 | Functional evaluation of DNA repair in human biopsies and their relation to other cellular biomarkers. | Slyskova J et al. | 2014 | Frontiers in genetics |
| 24990617 | Potentially functional variants in the core nucleotide excision repair genes predict survival in Japanese gastric cancer patients. | Li Y et al. | 2014 | Carcinogenesis |
| 25311495 | Polymorphisms in XPC, XPD and XPG DNA repair genes and leukemia risk in a Tunisian population. | Douzi K et al. | 2015 | Leukemia & lymphoma |
| 25644244 | Association analysis of ERCC5 gene polymorphisms with risk of breast cancer in Han women of northwest China. | Wang H et al. | 2016 | Breast cancer (Tokyo, Japan) |
| 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 |
| 26130668 | Nucleotide Excision Repair Gene ERCC2 and ERCC5 Variants Increase Risk of Uterine Cervical Cancer. | Joo J et al. | 2016 | Cancer research and treatment |
| 26263974 | Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine. | Simeon V et al. | 2015 | International journal of molecular sciences |
| 26264164 | A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors. | Geng P et al. | 2016 | Molecular neurobiology |
| 26436406 | Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma. | Wang MJ et al. | 2015 | Genetics and molecular research |
| 26751466 | Association between UGT1A1 Polymorphism and Risk of Laryngeal Squamous Cell Carcinoma. | Huangfu H et al. | 2016 | International journal of environmental research and public health |
| 26820236 | Association between XPG polymorphisms and stomach cancer susceptibility in a Chinese population. | Chen YZ et al. | 2016 | Journal of cellular and molecular medicine |
| 26843108 | A Comprehensive Meta-analysis of Genetic Associations Between Key Polymorphic Loci in DNA Repair Genes and Glioma Risk. | Qi L et al. | 2017 | Molecular neurobiology |
| 26887052 | XPG rs2296147 T>C polymorphism predicted clinical outcome in colorectal cancer. | Wang F et al. | 2016 | Oncotarget |
| 27019310 | Association of potentially functional variants in the XPG gene with neuroblastoma risk in a Chinese population. | He J et al. | 2016 | Journal of cellular and molecular medicine |
| 27235448 | Haplotype and diplotype analyses of variation in ERCC5 transcription cis-regulation in normal bronchial epithelial cells. | Zhang X et al. | 2016 | Physiological genomics |
| 27285066 | DNA excision repair and double-strand break repair gene polymorphisms and the level of chromosome aberration in children with long-term exposure to radon. | Larionov AV et al. | 2016 | International journal of radiation biology |
| 27323183 | Association between ERCC5 gene polymorphisms and gastric cancer risk. | Guo BW et al. | 2016 | Genetics and molecular research |
| 27465648 | The genetic variations in DNA repair genes ERCC2 and XRCC1 were associated with the overall survival of advanced non-small-cell lung cancer patients. | Wang S et al. | 2016 | Cancer medicine |
| 27698911 | XPG Gene Polymorphisms Contribute to Colorectal Cancer Susceptibility: A Two-Stage Case-Control Study. | Hua RX et al. | 2016 | Journal of Cancer |
| 28415781 | Relevance of DNA repair gene polymorphisms to gastric cancer risk and phenotype. | Carrera-Lasfuentes P et al. | 2017 | Oncotarget |
| 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 |
| 28920307 | The association between polymorphisms in the DNA nucleotide excision repair genes and RRM1 gene and lung cancer risk. | Li X et al. | 2012 | Thoracic cancer |
| 29416691 | Chinese C allele carriers of the ERCC5 rs1047768 polymorphism are more sensitive to platinum-based chemotherapy: a meta-analysis. | Xu M et al. | 2018 | Oncotarget |
| 29506519 | RNAseq analysis of bronchial epithelial cells to identify COPD-associated genes and SNPs. | Yeo J et al. | 2018 | BMC pulmonary medicine |
| 29581776 | Association of Smoking and XPG, CYP1A1, OGG1, ERCC5, ERCC1, MMP2, and MMP9 Gene Polymorphisms with the early detection and occurrence of Laryngeal Squamous Carcinoma. | Zhu Y et al. | 2018 | Journal of Cancer |
| 29779017 | XPG rs17655 G>C polymorphism associated with cancer risk: evidence from 60 studies. | Zhao J et al. | 2018 | Aging |
| 29893334 | Modulation of risk of squamous cell carcinoma head and neck in North Indian population with polymorphisms in xeroderma pigmentosum complementation Group C gene. | Yadav SK et al. | 2018 | Journal of cancer research and therapeutics |
| 30123346 | Polymorphisms in ERCC2 and ERCC5 and Risk of Prostate Cancer: A Meta-Analysis and Systematic Review. | Liu Y et al. | 2018 | Journal of Cancer |
| 30337837 | Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis. | Wen J et al. | 2018 | Cancer cell international |
| 30527102 | The relationship between DNA repair genes (XPA, XPF, XPG) polymorphism and the risk of preeclampsia in Chinese Han Women. | Wang H et al. | 2018 | Pregnancy hypertension |
| 30539843 | Meta-analysis of the relationship between excision repair cross-complementing Group 5 rs17655 gene polymorphism and head and neck cancer susceptibility. | Li T et al. | 2018 | Journal of cancer research and therapeutics |
| 30588297 | Overall survival of classical Hodgkins lymphoma in Saudi patients is affected by XPG repair gene polymorphism. | Al Sayed Ahmed H et al. | 2019 | Biomedical reports |
| 30609649 | Polymorphisms in ERCC5 rs17655 and ERCC1 rs735482 Genes Associated with the Survival of Male Patients with Postoperative Oral Squamous Cell Carcinoma Treated with Adjuvant Concurrent Chemoradiotherapy. | Senghore T et al. | 2019 | Journal of clinical medicine |
| 30672443 | Are XPD and XPG gene variants related to the mechanism of oral squamous cell carcinoma? | Avci H et al. | 2018 | Cellular and molecular biology (Noisy-le-Grand, France) |
| 30744808 | Association of BER and NER pathway polymorphism haplotypes and micronucleus frequencies with global DNA methylation in benzene-exposed workers of China: Effects of DNA repair genes polymorphisms on genetic damage. | Zhang GH et al. | 2019 | Mutation research. Genetic toxicology and environmental mutagenesis |
| 30899401 | XPG Asp1104His polymorphism increases colorectal cancer risk especially in Asians. | Su J et al. | 2019 | American journal of translational research |
| 31568607 | Association between nucleotide excision repair gene polymorphism and colorectal cancer risk. | Zhang Y et al. | 2019 | Journal of clinical laboratory analysis |
| 31584889 | Polymorphisms in DNA repair genes in lung cancer patients living in a coal-mining region. | Minina VI et al. | 2019 | European journal of cancer prevention |
| 31818908 | Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer. | Montazeri Z et al. | 2020 | Gut |
| 31875816 | [XP gene polymorphisms and haplotypes with genetic susceptibility to lung cancer]. | Huang Y et al. | 2019 | Wei sheng yan jiu = Journal of hygiene research |
| 32546699 | ERCC2 gene single-nucleotide polymorphism as a prognostic factor for locally advanced head and neck carcinomas after definitive cisplatin-based radiochemotherapy. | Guberina M et al. | 2021 | The pharmacogenomics journal |
| 32683874 | Association of XPG rs17655G>C and XPF rs1799801T>C Polymorphisms with Susceptibility to Cutaneous Malignant Melanoma: Evidence from a Case-Control Study, Systematic Review and Meta-Analysis. | Mohammadreza Niktabar S et al. | 2020 | Klinicka onkologie |
| 33551103 | Modulation of DNA damage by XPF, XPG and ERCC1 gene polymorphisms in pesticide-exposed agricultural workers of Punjab, North-West India. | Kaur K et al. | 2021 | Mutation research. Genetic toxicology and environmental mutagenesis |
| 33552962 | Risk Factors and Genetic Biomarkers of Multiple Primary Cancers in Esophageal Cancer Patients. | Yang PW et al. | 2020 | Frontiers in oncology |
| 34182385 | Bisphenol A exposure, interaction with genetic variants and colorectal cancer via mediating oxidative stress biomarkers. | Deng Y et al. | 2021 | Environmental pollution (Barking, Essex |
| 34540891 | Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk. | Li X et al. | 2021 | Frontiers in molecular biosciences |
| 35182686 | Biomarker signatures for primary radiochemotherapy of locally advanced HNSCC - Hypothesis generation on a multicentre cohort of the DKTK-ROG. | Löck S et al. | 2022 | Radiotherapy and oncology |
| 35691022 | The interplay between XPG-Asp1104His polymorphism and reproductive risk factors elevates risk of breast cancer in Tanzanian women: A multiple interaction analysis. | Adolf IC et al. | 2023 | Cancer medicine |
| 35780063 | Association of nonsynonymous SNPs of nucleotide excision repair genes ERCC4 rs1800067 (G/A) and ERCC5 rs17655 (G/C) as predisposing risk factors for gallbladder cancer. | Anjali K et al. | 2022 | Digestive and liver disease |
| 36033436 | Polymorphisms in ERCC4 and ERCC5 and risk of cancers: Systematic research synopsis, meta-analysis, and epidemiological evidence. | Zuo C et al. | 2022 | Frontiers in oncology |
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.