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.
rs12913832
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:28120472 (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
- A>C / A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.423038 (111974/264690, TOPMED)A=0.366882 (89771/244686, ALFA)A=0.494064 (69250/140164, GnomAD) (+ 20 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- HERC2 : Intron Variant
- Publications
- 109 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 | 244900 | A=0.366933 | C=0.000000, G=0.633067 |
| European | Sub | 203566 | A=0.292392 | C=0.000000, G=0.707608 |
| African | Sub | 7814 | A=0.8800 | C=0.0000, G=0.1200 |
| African Others | Sub | 264 | A=0.996 | C=0.000, G=0.004 |
| African American | Sub | 7550 | A=0.8759 | C=0.0000, G=0.1241 |
| Asian | Sub | 3468 | A=0.9977 | C=0.0000, G=0.0023 |
| East Asian | Sub | 2130 | A=0.9986 | C=0.0000, G=0.0014 |
| Other Asian | Sub | 1338 | A=0.9963 | C=0.0000, G=0.0037 |
| Latin American 1 | Sub | 938 | A=0.624 | C=0.000, G=0.376 |
| Latin American 2 | Sub | 8814 | A=0.7968 | C=0.0000, G=0.2032 |
| South Asian | Sub | 5038 | A=0.8910 | C=0.0000, G=0.1090 |
| Other | Sub | 15262 | A=0.51815 | C=0.00000, G=0.48185 |
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 | A=0.576962 | G=0.423038 |
| Allele Frequency Aggregator | Total | Global | 244686 | A=0.366882 | C=0.000000, G=0.633118 |
| Allele Frequency Aggregator | European | Sub | 203388 | A=0.292323 | C=0.000000, G=0.707677 |
| Allele Frequency Aggregator | Other | Sub | 15240 | A=0.51811 | C=0.00000, G=0.48189 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 8814 | A=0.7968 | C=0.0000, G=0.2032 |
| Allele Frequency Aggregator | African | Sub | 7800 | A=0.8799 | C=0.0000, G=0.1201 |
| Allele Frequency Aggregator | South Asian | Sub | 5038 | A=0.8910 | C=0.0000, G=0.1090 |
| Allele Frequency Aggregator | Asian | Sub | 3468 | A=0.9977 | C=0.0000, G=0.0023 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 938 | A=0.624 | C=0.000, G=0.376 |
| gnomAD - Genomes | Global | Study-wide | 140164 | A=0.494064 | G=0.505936 |
| gnomAD - Genomes | European | Sub | 75912 | A=0.21813 | G=0.78187 |
| gnomAD - Genomes | African | Sub | 41994 | A=0.86915 | G=0.13085 |
| gnomAD - Genomes | American | Sub | 13656 | A=0.75286 | G=0.24714 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | A=0.4272 | G=0.5728 |
| gnomAD - Genomes | East Asian | Sub | 3130 | A=0.9987 | G=0.0013 |
| gnomAD - Genomes | Other | Sub | 2148 | A=0.6355 | G=0.3645 |
| The PAGE Study | Global | Study-wide | 78702 | A=0.83525 | G=0.16475 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.85373 | G=0.14627 |
| The PAGE Study | Mexican | Sub | 10810 | A=0.80833 | G=0.19167 |
| The PAGE Study | Asian | Sub | 8318 | A=0.9969 | G=0.0031 |
| The PAGE Study | PuertoRican | Sub | 7918 | A=0.7608 | G=0.2392 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.8357 | G=0.1643 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.7113 | G=0.2887 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.8156 | G=0.1844 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.8237 | G=0.1763 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.7881 | G=0.2119 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.5222 | G=0.4778 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.893 | G=0.107 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.99996 | G=0.00004 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.99994 | G=0.00006 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.8210 | G=0.1790 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.9720 | G=0.0280 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.3665 | G=0.6335 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.9210 | G=0.0790 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.9991 | G=0.0009 |
| 1000Genomes_30x | American | Sub | 980 | A=0.798 | G=0.202 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.8227 | G=0.1773 |
| 1000Genomes | African | Sub | 1322 | A=0.9720 | G=0.0280 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.9980 | G=0.0020 |
| 1000Genomes | Europe | Sub | 1006 | A=0.3638 | G=0.6362 |
| 1000Genomes | South Asian | Sub | 978 | A=0.929 | G=0.071 |
| 1000Genomes | American | Sub | 694 | A=0.798 | G=0.202 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.0830 | G=0.9170 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.2302 | G=0.7698 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.2295 | G=0.7705 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | A=0.9990 | G=0.0010 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | A=0.8445 | G=0.1555 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | A=0.996 | G=0.004 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | A=0.853 | G=0.147 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | A=0.809 | G=0.191 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | A=0.484 | G=0.516 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | A=0.996 | G=0.004 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | A=0.870 | G=0.130 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | A=1.00 | G=0.00 |
| HapMap | Global | Study-wide | 1272 | A=0.7586 | G=0.2414 |
| HapMap | American | Sub | 600 | A=0.612 | G=0.388 |
| HapMap | African | Sub | 406 | A=0.998 | G=0.002 |
| HapMap | Europe | Sub | 176 | A=0.585 | G=0.415 |
| HapMap | Asian | Sub | 90 | A=1.00 | G=0.00 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.121 | G=0.879 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | A=0.994 | G=0.006 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | A=0.994 | G=0.006 |
| Chileans | Chilean | Study-wide | 626 | A=0.743 | G=0.257 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.125 | G=0.875 |
| Qatari | Global | Study-wide | 216 | A=0.968 | G=0.032 |
| SGDP_PRJ | Global | Study-wide | 128 | A=0.336 | G=0.664 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 98 | A=0.86 | G=0.14 |
| Siberian | Global | Study-wide | 42 | A=0.14 | G=0.86 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.10 | G=0.90 |
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 15 | NC_000015.10:g.28120472A>C |
| GRCh38.p14 chr 15 | NC_000015.10:g.28120472A>G |
| GRCh37.p13 chr 15 | NC_000015.9:g.28365618A>C |
| GRCh37.p13 chr 15 | NC_000015.9:g.28365618A>G |
| HERC2 RefSeqGene | NG_016355.1:g.206678T>G |
| HERC2 RefSeqGene | NG_016355.1:g.206678T>C |
| GRCh38.p14 chr 15 fix patch HG2139_PATCH | NW_011332701.1:g.253911G>A |
| GRCh38.p14 chr 15 fix patch HG2139_PATCH | NW_011332701.1:g.253911G>C |
| GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8 | NT_187660.1:g.253911G>A |
| GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8 | NT_187660.1:g.253911G>C |
Gene: HERC2, HECT and RLD domain containing E3 ubiquitin protein ligase 2
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HERC2 transcript | NM_004667.6:c.13272+874T>G | N/A | Intron Variant |
| HERC2 transcript variant X5 |
XM_005268276.6:c.13158+87… XM_005268276.6:c.13158+874T>G |
N/A | Intron Variant |
| HERC2 transcript variant X1 |
XM_006720726.4:c.13257+87… XM_006720726.4:c.13257+874T>G |
N/A | Intron Variant |
| HERC2 transcript variant X6 |
XM_006720727.4:c.13014+87… XM_006720727.4:c.13014+874T>G |
N/A | Intron Variant |
| HERC2 transcript variant X3 |
XM_017022695.1:c.13158+87… XM_017022695.1:c.13158+874T>G |
N/A | Intron Variant |
| HERC2 transcript variant X4 |
XM_017022696.2:c.13158+87… XM_017022696.2:c.13158+874T>G |
N/A | Intron Variant |
| HERC2 transcript variant X10 |
XM_017022697.2:c.6438+874… XM_017022697.2:c.6438+874T>G |
N/A | Intron Variant |
| HERC2 transcript variant X11 |
XM_017022698.2:c.6438+874… XM_017022698.2:c.6438+874T>G |
N/A | Intron Variant |
| HERC2 transcript variant X2 |
XM_047433206.1:c.13245+87… XM_047433206.1:c.13245+874T>G |
N/A | Intron Variant |
| HERC2 transcript variant X7 |
XM_047433207.1:c.12789+87… XM_047433207.1:c.12789+874T>G |
N/A | Intron Variant |
| HERC2 transcript variant X8 | XM_047433208.1:c. | N/A | Genic Downstream Transcript Variant |
| HERC2 transcript variant X9 | XM_047433209.1:c. | N/A | Genic Downstream 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: G (allele ID:
19784
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000005011.5 | Skin/hair/eye pigmentation, variation in, 1 | Association |
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 | A= | C | G |
|---|---|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.28120472= | NC_000015.10:g.28120472A>C | NC_000015.10:g.28120472A>G |
| GRCh37.p13 chr 15 | NC_000015.9:g.28365618= | NC_000015.9:g.28365618A>C | NC_000015.9:g.28365618A>G |
| HERC2 RefSeqGene | NG_016355.1:g.206678= | NG_016355.1:g.206678T>G | NG_016355.1:g.206678T>C |
| GRCh38.p14 chr 15 fix patch HG2139_PATCH | NW_011332701.1:g.253911G>A | NW_011332701.1:g.253911G>C | NW_011332701.1:g.253911= |
| GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8 | NT_187660.1:g.253911G>A | NT_187660.1:g.253911G>C | NT_187660.1:g.253911= |
| HERC2 transcript | NM_004667.5:c.13272+874= | NM_004667.5:c.13272+874T>G | NM_004667.5:c.13272+874T>C |
| HERC2 transcript | NM_004667.6:c.13272+874= | NM_004667.6:c.13272+874T>G | NM_004667.6:c.13272+874T>C |
| HERC2 transcript variant X1 | XM_005268275.1:c.13257+874= | XM_005268275.1:c.13257+874T>G | XM_005268275.1:c.13257+874T>C |
| HERC2 transcript variant X2 | XM_005268276.1:c.13158+874= | XM_005268276.1:c.13158+874T>G | XM_005268276.1:c.13158+874T>C |
| HERC2 transcript variant X5 | XM_005268276.6:c.13158+874= | XM_005268276.6:c.13158+874T>G | XM_005268276.6:c.13158+874T>C |
| HERC2 transcript variant X3 | XM_005268277.1:c.13158+874= | XM_005268277.1:c.13158+874T>G | XM_005268277.1:c.13158+874T>C |
| HERC2 transcript variant X4 | XM_005268278.1:c.13014+874= | XM_005268278.1:c.13014+874T>G | XM_005268278.1:c.13014+874T>C |
| HERC2 transcript variant X5 | XM_005268279.1:c.10788+874= | XM_005268279.1:c.10788+874T>G | XM_005268279.1:c.10788+874T>C |
| HERC2 transcript variant X6 | XM_005268280.1:c.6438+874= | XM_005268280.1:c.6438+874T>G | XM_005268280.1:c.6438+874T>C |
| HERC2 transcript variant X7 | XM_005268281.1:c.6438+874= | XM_005268281.1:c.6438+874T>G | XM_005268281.1:c.6438+874T>C |
| HERC2 transcript variant X1 | XM_006720726.4:c.13257+874= | XM_006720726.4:c.13257+874T>G | XM_006720726.4:c.13257+874T>C |
| HERC2 transcript variant X6 | XM_006720727.4:c.13014+874= | XM_006720727.4:c.13014+874T>G | XM_006720727.4:c.13014+874T>C |
| HERC2 transcript variant X3 | XM_017022695.1:c.13158+874= | XM_017022695.1:c.13158+874T>G | XM_017022695.1:c.13158+874T>C |
| HERC2 transcript variant X4 | XM_017022696.2:c.13158+874= | XM_017022696.2:c.13158+874T>G | XM_017022696.2:c.13158+874T>C |
| HERC2 transcript variant X10 | XM_017022697.2:c.6438+874= | XM_017022697.2:c.6438+874T>G | XM_017022697.2:c.6438+874T>C |
| HERC2 transcript variant X11 | XM_017022698.2:c.6438+874= | XM_017022698.2:c.6438+874T>G | XM_017022698.2:c.6438+874T>C |
| HERC2 transcript variant X2 | XM_047433206.1:c.13245+874= | XM_047433206.1:c.13245+874T>G | XM_047433206.1:c.13245+874T>C |
| HERC2 transcript variant X7 | XM_047433207.1:c.12789+874= | XM_047433207.1:c.12789+874T>G | XM_047433207.1:c.12789+874T>C |
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#.
142 SubSNP,
23 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SSAHASNP | ss21286602 | Apr 05, 2004 (121) |
| 2 | ILLUMINA | ss67046229 | Nov 30, 2006 (127) |
| 3 | ILLUMINA | ss67371668 | Nov 30, 2006 (127) |
| 4 | ILLUMINA | ss68141139 | Dec 12, 2006 (127) |
| 5 | PERLEGEN | ss69171491 | May 17, 2007 (127) |
| 6 | ILLUMINA | ss70588366 | May 25, 2008 (130) |
| 7 | ILLUMINA | ss71131640 | May 17, 2007 (127) |
| 8 | ILLUMINA | ss75624675 | Dec 07, 2007 (129) |
| 9 | AFFY | ss76638055 | Dec 07, 2007 (129) |
| 10 | HGSV | ss77177049 | Dec 07, 2007 (129) |
| 11 | KRIBB_YJKIM | ss85283465 | Dec 15, 2007 (130) |
| 12 | BCMHGSC_JDW | ss90103967 | Mar 24, 2008 (129) |
| 13 | HUMANGENOME_JCVI | ss96746334 | Feb 06, 2009 (130) |
| 14 | 1000GENOMES | ss108696416 | Jan 23, 2009 (130) |
| 15 | ENSEMBL | ss134210389 | Dec 01, 2009 (131) |
| 16 | ENSEMBL | ss136931804 | Dec 01, 2009 (131) |
| 17 | ILLUMINA | ss153294689 | Dec 01, 2009 (131) |
| 18 | ILLUMINA | ss159238644 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss160306433 | Dec 01, 2009 (131) |
| 20 | COMPLETE_GENOMICS | ss167716482 | Jul 04, 2010 (132) |
| 21 | COMPLETE_GENOMICS | ss170884602 | Jul 04, 2010 (132) |
| 22 | ILLUMINA | ss172275701 | Jul 04, 2010 (132) |
| 23 | BCM-HGSC-SUB | ss207242546 | Jul 04, 2010 (132) |
| 24 | 1000GENOMES | ss236722745 | Jul 15, 2010 (132) |
| 25 | BL | ss254862258 | May 09, 2011 (134) |
| 26 | GMI | ss286924734 | Apr 25, 2013 (138) |
| 27 | PJP | ss291808328 | May 09, 2011 (134) |
| 28 | ILLUMINA | ss410902716 | Sep 17, 2011 (135) |
| 29 | ILLUMINA | ss479840369 | May 04, 2012 (137) |
| 30 | ILLUMINA | ss479847828 | May 04, 2012 (137) |
| 31 | ILLUMINA | ss480442448 | Sep 08, 2015 (146) |
| 32 | ILLUMINA | ss484718673 | May 04, 2012 (137) |
| 33 | EXOME_CHIP | ss491491371 | May 04, 2012 (137) |
| 34 | ILLUMINA | ss536821409 | Sep 08, 2015 (146) |
| 35 | SSMP | ss660095918 | Apr 25, 2013 (138) |
| 36 | ILLUMINA | ss778692799 | Aug 21, 2014 (142) |
| 37 | ILLUMINA | ss780681642 | Aug 21, 2014 (142) |
| 38 | ILLUMINA | ss782806059 | Aug 21, 2014 (142) |
| 39 | ILLUMINA | ss783354970 | Aug 21, 2014 (142) |
| 40 | ILLUMINA | ss783771442 | Aug 21, 2014 (142) |
| 41 | ILLUMINA | ss832059164 | Apr 01, 2015 (144) |
| 42 | ILLUMINA | ss832750966 | Aug 21, 2014 (142) |
| 43 | ILLUMINA | ss833341796 | Aug 21, 2014 (142) |
| 44 | ILLUMINA | ss834151559 | Aug 21, 2014 (142) |
| 45 | EVA-GONL | ss991624604 | Aug 21, 2014 (142) |
| 46 | JMKIDD_LAB | ss1080003581 | Aug 21, 2014 (142) |
| 47 | 1000GENOMES | ss1352822772 | Aug 21, 2014 (142) |
| 48 | OMIM-CURATED-RECORDS | ss1505810804 | Dec 08, 2014 (142) |
| 49 | EVA_GENOME_DK | ss1577523106 | Apr 01, 2015 (144) |
| 50 | EVA_UK10K_ALSPAC | ss1632671825 | Apr 01, 2015 (144) |
| 51 | EVA_UK10K_TWINSUK | ss1675665858 | Apr 01, 2015 (144) |
| 52 | EVA_DECODE | ss1695636283 | Apr 01, 2015 (144) |
| 53 | EVA_SVP | ss1713477662 | Apr 01, 2015 (144) |
| 54 | ILLUMINA | ss1752154479 | Sep 08, 2015 (146) |
| 55 | ILLUMINA | ss1752154480 | Sep 08, 2015 (146) |
| 56 | ILLUMINA | ss1917893719 | Feb 12, 2016 (147) |
| 57 | WEILL_CORNELL_DGM | ss1935021786 | Feb 12, 2016 (147) |
| 58 | ILLUMINA | ss1946388517 | Feb 12, 2016 (147) |
| 59 | ILLUMINA | ss1959597544 | Feb 12, 2016 (147) |
| 60 | GENOMED | ss1968070800 | Jul 19, 2016 (147) |
| 61 | JJLAB | ss2028291163 | Sep 14, 2016 (149) |
| 62 | ILLUMINA | ss2094797604 | Dec 20, 2016 (150) |
| 63 | ILLUMINA | ss2095057521 | Dec 20, 2016 (150) |
| 64 | USC_VALOUEV | ss2156688198 | Dec 20, 2016 (150) |
| 65 | HUMAN_LONGEVITY | ss2205531722 | Dec 20, 2016 (150) |
| 66 | ILLUMINA | ss2633208764 | Nov 08, 2017 (151) |
| 67 | ILLUMINA | ss2633208765 | Nov 08, 2017 (151) |
| 68 | ILLUMINA | ss2633208766 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss2635056531 | Nov 08, 2017 (151) |
| 70 | GRF | ss2701147209 | Nov 08, 2017 (151) |
| 71 | AFFY | ss2985035089 | Nov 08, 2017 (151) |
| 72 | AFFY | ss2985667530 | Nov 08, 2017 (151) |
| 73 | SWEGEN | ss3013006620 | Nov 08, 2017 (151) |
| 74 | ILLUMINA | ss3021616301 | Nov 08, 2017 (151) |
| 75 | BIOINF_KMB_FNS_UNIBA | ss3027969856 | Nov 08, 2017 (151) |
| 76 | CSHL | ss3351042102 | Nov 08, 2017 (151) |
| 77 | ILLUMINA | ss3627323443 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3627323444 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3631203083 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3633091657 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3633796008 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3634597992 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3634597993 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3635485080 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3636288277 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3637236311 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3638075923 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3639051385 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3639835015 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3640305319 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3640305320 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3643060630 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3643885259 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3644641639 | Oct 12, 2018 (152) |
| 95 | URBANLAB | ss3650317227 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3652015645 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3652015646 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3653806811 | Oct 12, 2018 (152) |
| 99 | EGCUT_WGS | ss3680178183 | Jul 13, 2019 (153) |
| 100 | EVA_DECODE | ss3697585260 | Jul 13, 2019 (153) |
| 101 | ILLUMINA | ss3725484806 | Jul 13, 2019 (153) |
| 102 | ACPOP | ss3740787487 | Jul 13, 2019 (153) |
| 103 | ILLUMINA | ss3744417217 | Jul 13, 2019 (153) |
| 104 | ILLUMINA | ss3744898557 | Jul 13, 2019 (153) |
| 105 | ILLUMINA | ss3744898558 | Jul 13, 2019 (153) |
| 106 | EVA | ss3752891785 | Jul 13, 2019 (153) |
| 107 | PAGE_CC | ss3771818516 | Jul 13, 2019 (153) |
| 108 | ILLUMINA | ss3772397273 | Jul 13, 2019 (153) |
| 109 | ILLUMINA | ss3772397274 | Jul 13, 2019 (153) |
| 110 | PACBIO | ss3787801170 | Jul 13, 2019 (153) |
| 111 | PACBIO | ss3792820396 | Jul 13, 2019 (153) |
| 112 | PACBIO | ss3797704857 | Jul 13, 2019 (153) |
| 113 | KHV_HUMAN_GENOMES | ss3818208952 | Jul 13, 2019 (153) |
| 114 | EVA | ss3834156903 | Apr 27, 2020 (154) |
| 115 | EVA | ss3840675196 | Apr 27, 2020 (154) |
| 116 | EVA | ss3846163980 | Apr 27, 2020 (154) |
| 117 | HGDP | ss3847518226 | Apr 27, 2020 (154) |
| 118 | SGDP_PRJ | ss3882552950 | Apr 27, 2020 (154) |
| 119 | KRGDB | ss3931677093 | Apr 27, 2020 (154) |
| 120 | EVA | ss3984698660 | Apr 26, 2021 (155) |
| 121 | EVA | ss3985707119 | Apr 26, 2021 (155) |
| 122 | EVA | ss4017693138 | Apr 26, 2021 (155) |
| 123 | VINODS | ss4031999388 | Apr 26, 2021 (155) |
| 124 | TOPMED | ss4985734058 | Apr 26, 2021 (155) |
| 125 | TOMMO_GENOMICS | ss5215406898 | Apr 26, 2021 (155) |
| 126 | EVA | ss5237548000 | Apr 26, 2021 (155) |
| 127 | 1000G_HIGH_COVERAGE | ss5297861873 | Oct 16, 2022 (156) |
| 128 | EVA | ss5418197970 | Oct 16, 2022 (156) |
| 129 | HUGCELL_USP | ss5491677790 | Oct 16, 2022 (156) |
| 130 | EVA | ss5511382813 | Oct 16, 2022 (156) |
| 131 | 1000G_HIGH_COVERAGE | ss5598973830 | Oct 16, 2022 (156) |
| 132 | SANFORD_IMAGENETICS | ss5624356243 | Oct 16, 2022 (156) |
| 133 | SANFORD_IMAGENETICS | ss5657176209 | Oct 16, 2022 (156) |
| 134 | TOMMO_GENOMICS | ss5768982959 | Oct 16, 2022 (156) |
| 135 | EVA | ss5799933051 | Oct 16, 2022 (156) |
| 136 | YY_MCH | ss5815188643 | Oct 16, 2022 (156) |
| 137 | EVA | ss5827983887 | Oct 16, 2022 (156) |
| 138 | EVA | ss5847445868 | Oct 16, 2022 (156) |
| 139 | EVA | ss5847736200 | Oct 16, 2022 (156) |
| 140 | EVA | ss5875251688 | Oct 16, 2022 (156) |
| 141 | EVA | ss5948586707 | Oct 16, 2022 (156) |
| 142 | EVA | ss5979455543 | Oct 16, 2022 (156) |
| 143 | 1000Genomes | NC_000015.9 - 28365618 | Oct 12, 2018 (152) |
| 144 | 1000Genomes_30x | NC_000015.10 - 28120472 | Oct 16, 2022 (156) |
| 145 | The Avon Longitudinal Study of Parents and Children | NC_000015.9 - 28365618 | Oct 12, 2018 (152) |
| 146 | Chileans | NC_000015.9 - 28365618 | Apr 27, 2020 (154) |
| 147 | Genetic variation in the Estonian population | NC_000015.9 - 28365618 | Oct 12, 2018 (152) |
| 148 | The Danish reference pan genome | NC_000015.9 - 28365618 | Apr 27, 2020 (154) |
| 149 | gnomAD - Genomes | NC_000015.10 - 28120472 | Apr 26, 2021 (155) |
| 150 | Genome of the Netherlands Release 5 | NC_000015.9 - 28365618 | Apr 27, 2020 (154) |
| 151 | HGDP-CEPH-db Supplement 1 | NC_000015.8 - 26039213 | Apr 27, 2020 (154) |
| 152 | HapMap | NC_000015.10 - 28120472 | Apr 27, 2020 (154) |
| 153 | KOREAN population from KRGDB | NC_000015.9 - 28365618 | Apr 27, 2020 (154) |
| 154 | Northern Sweden | NC_000015.9 - 28365618 | Jul 13, 2019 (153) |
| 155 | The PAGE Study | NC_000015.10 - 28120472 | Jul 13, 2019 (153) |
| 156 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000015.9 - 28365618 | Apr 26, 2021 (155) |
| 157 | CNV burdens in cranial meningiomas | NC_000015.9 - 28365618 | Apr 26, 2021 (155) |
| 158 | Qatari | NC_000015.9 - 28365618 | Apr 27, 2020 (154) |
| 159 | SGDP_PRJ | NC_000015.9 - 28365618 | Apr 27, 2020 (154) |
| 160 | Siberian | NC_000015.9 - 28365618 | Apr 27, 2020 (154) |
| 161 | 8.3KJPN | NC_000015.9 - 28365618 | Apr 26, 2021 (155) |
| 162 | 14KJPN | NC_000015.10 - 28120472 | Oct 16, 2022 (156) |
| 163 | TopMed | NC_000015.10 - 28120472 | Apr 26, 2021 (155) |
| 164 | UK 10K study - Twins | NC_000015.9 - 28365618 | Oct 12, 2018 (152) |
| 165 | ALFA | NC_000015.10 - 28120472 | Apr 26, 2021 (155) |
| 166 | ClinVar | RCV000005011.5 | 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) |
|---|---|
| rs60078917 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 11685707837 | NC_000015.10:28120471:A:C | NC_000015.10:28120471:A:C | (self) |
| 196118, ss76638055, ss77177049, ss90103967, ss108696416, ss160306433, ss167716482, ss170884602, ss207242546, ss254862258, ss286924734, ss291808328, ss410902716, ss479840369, ss1695636283, ss1713477662, ss2635056531, ss3639051385, ss3639835015, ss3643060630, ss3643885259, ss3847518226 | NC_000015.8:26039212:A:G | NC_000015.10:28120471:A:G | (self) |
| 65869992, 36575990, 148863, 25916431, 3792771, 16338523, 38854487, 14072352, 933046, 248181, 17063716, 34569930, 9204552, 73376205, 36575990, ss236722745, ss479847828, ss480442448, ss484718673, ss491491371, ss536821409, ss660095918, ss778692799, ss780681642, ss782806059, ss783354970, ss783771442, ss832059164, ss832750966, ss833341796, ss834151559, ss991624604, ss1080003581, ss1352822772, ss1577523106, ss1632671825, ss1675665858, ss1752154479, ss1752154480, ss1917893719, ss1935021786, ss1946388517, ss1959597544, ss1968070800, ss2028291163, ss2094797604, ss2095057521, ss2156688198, ss2633208764, ss2633208765, ss2633208766, ss2701147209, ss2985035089, ss2985667530, ss3013006620, ss3021616301, ss3351042102, ss3627323443, ss3627323444, ss3631203083, ss3633091657, ss3633796008, ss3634597992, ss3634597993, ss3635485080, ss3636288277, ss3637236311, ss3638075923, ss3640305319, ss3640305320, ss3644641639, ss3652015645, ss3652015646, ss3653806811, ss3680178183, ss3740787487, ss3744417217, ss3744898557, ss3744898558, ss3752891785, ss3772397273, ss3772397274, ss3787801170, ss3792820396, ss3797704857, ss3834156903, ss3840675196, ss3882552950, ss3931677093, ss3984698660, ss3985707119, ss4017693138, ss5215406898, ss5237548000, ss5418197970, ss5511382813, ss5624356243, ss5657176209, ss5799933051, ss5827983887, ss5847445868, ss5847736200, ss5948586707, ss5979455543 | NC_000015.9:28365617:A:G | NC_000015.10:28120471:A:G | (self) |
| RCV000005011.5, 86499765, 464288910, 1232656, 1039985, 102820063, 201279718, 11685707837, ss1505810804, ss2205531722, ss3027969856, ss3650317227, ss3697585260, ss3725484806, ss3771818516, ss3818208952, ss3846163980, ss4985734058, ss5297861873, ss5491677790, ss5598973830, ss5768982959, ss5815188643, ss5875251688 | NC_000015.10:28120471:A:G | NC_000015.10:28120471:A:G | (self) |
| ss21286602 | NT_010280.16:731108:A:G | NC_000015.10:28120471:A:G | (self) |
| ss67046229, ss67371668, ss68141139, ss69171491, ss70588366, ss71131640, ss75624675, ss85283465, ss96746334, ss134210389, ss136931804, ss153294689, ss159238644, ss172275701 | NT_026446.14:4800764:A:G | NC_000015.10:28120471:A:G | (self) |
| ss4031999388 | NT_187660.1:253910:G:G | NC_000015.10:28120471:A:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
109
citations for rs12913832
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 17236130 | A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. | Duffy DL et al. | 2007 | American journal of human genetics |
| 18172690 | Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. | Eiberg H et al. | 2008 | Human genetics |
| 18252222 | A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. | Sturm RA et al. | 2008 | American journal of human genetics |
| 18483556 | A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. | Han J et al. | 2008 | PLoS genetics |
| 18650849 | Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci. | Cook AL et al. | 2009 | The Journal of investigative dermatology |
| 19208107 | Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. | Branicki W et al. | 2009 | Annals of human genetics |
| 19278018 | Blue eyes in lemurs and humans: same phenotype, different genetic mechanism. | Bradley BJ et al. | 2009 | American journal of physical anthropology |
| 19340012 | Genome-wide association study of tanning phenotype in a population of European ancestry. | Nan H et al. | 2009 | The Journal of investigative dermatology |
| 19472299 | Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population. | Iida R et al. | 2009 | Cell biochemistry and function |
| 19619260 | Genetics of human iris colour and patterns. | Sturm RA et al. | 2009 | Pigment cell & melanoma research |
| 19668368 | Ancestry analysis in the 11-M Madrid bomb attack investigation. | Phillips C et al. | 2009 | PloS one |
| 19710684 | Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. | Duffy DL et al. | 2010 | The Journal of investigative dermatology |
| 19711812 | [Genetic analysis of the putative remains of general Władysław Sikorski]. | Kupiec T et al. | 2009 | Archiwum medycyny sadowej i kryminologii |
| 20018053 | A genome-wide association scan for rheumatoid arthritis data by Hotelling's T2 tests. | Chen L et al. | 2009 | BMC proceedings |
| 20158590 | Predicting phenotype from genotype: normal pigmentation. | Valenzuela RK et al. | 2010 | Journal of forensic sciences |
| 20221248 | Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation. | Edwards M et al. | 2010 | PLoS genetics |
| 20308648 | Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival. | Azzato EM et al. | 2010 | Journal of the National Cancer Institute |
| 20457063 | Human eye colour and HERC2, OCA2 and MATP. | Mengel-From J et al. | 2010 | Forensic science international. Genetics |
| 20463881 | Digital quantification of human eye color highlights genetic association of three new loci. | Liu F et al. | 2010 | PLoS genetics |
| 20546537 | Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. | Gerstenblith MR et al. | 2010 | Pigment cell & melanoma research |
| 20569440 | Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer. | Harries LW et al. | 2010 | BMC cancer |
| 20585627 | Web-based, participant-driven studies yield novel genetic associations for common traits. | Eriksson N et al. | 2010 | PLoS genetics |
| 20629734 | Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2. | Ibarrola-Villava M et al. | 2010 | Experimental dermatology |
| 20691402 | Whole-genome genetic diversity in a sample of Australians with deep Aboriginal ancestry. | McEvoy BP et al. | 2010 | American journal of human genetics |
| 20949057 | Identification of genetic and epigenetic marks involved in population structure. | Liu J et al. | 2010 | PloS one |
| 21197618 | Model-based prediction of human hair color using DNA variants. | Branicki W et al. | 2011 | Human genetics |
| 21253569 | Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations? | Casto AM et al. | 2011 | PLoS genetics |
| 21270109 | A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus. | Han J et al. | 2011 | Cancer research |
| 21533023 | Adaptations to climate-mediated selective pressures in humans. | Hancock AM et al. | 2011 | PLoS genetics |
| 21674838 | Genetic examination of the putative skull of Jan Kochanowski reveals its female sex. | Kupiec T et al. | 2011 | Croatian medical journal |
| 21835309 | GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. | Larsson M et al. | 2011 | American journal of human genetics |
| 21907010 | Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection. | Bhatia G et al. | 2011 | American journal of human genetics |
| 21926416 | Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. | Amos CI et al. | 2011 | Human molecular genetics |
| 22065085 | A global view of the OCA2-HERC2 region and pigmentation. | Donnelly MP et al. | 2012 | Human genetics |
| 22101828 | Technical note: quantitative measures of iris color using high resolution photographs. | Edwards M et al. | 2012 | American journal of physical anthropology |
| 22194982 | Association of systemic lupus erythematosus clinical features with European population genetic substructure. | Alonso-Perez E et al. | 2011 | PloS one |
| 22234890 | HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. | Visser M et al. | 2012 | Genome research |
| 22541939 | Bias in effect size of systemic lupus erythematosus susceptibility loci across Europe: a case-control study. | Alonso-Perez E et al. | 2012 | Arthritis research & therapy |
| 22629401 | Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D. | Berry DJ et al. | 2012 | PloS one |
| 22709892 | Further development of forensic eye color predictive tests. | Ruiz Y et al. | 2013 | Forensic science international. Genetics |
| 22734612 | Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. | Jaworek TJ et al. | 2012 | Orphanet journal of rare diseases |
| 23049788 | Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study. | Alonso-Perez E et al. | 2012 | PloS one |
| 23110848 | Human pigmentation genes under environmental selection. | Sturm RA et al. | 2012 | Genome biology |
| 23118974 | Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. | Candille SI et al. | 2012 | PloS one |
| 23205161 | The impact of cis-acting polymorphisms on the human phenotype. | Jones BL et al. | 2011 | The HUGO journal |
| 23543094 | Testing for associations between loci and environmental gradients using latent factor mixed models. | Frichot E et al. | 2013 | Molecular biology and evolution |
| 23548203 | Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. | Zhang M et al. | 2013 | Human molecular genetics |
| 23771755 | Improved eye- and skin-color prediction based on 8 SNPs. | Hart KL et al. | 2013 | Croatian medical journal |
| 23907626 | Influence of seasonal sunlight intensity and iris color on the anti-VEGF therapy for neovascular age-related macular degeneration. | Brockmann C et al. | 2013 | Eye (London, England) |
| 23927501 | Why it is hard to find genes associated with social science traits: theoretical and empirical considerations. | Chabris CF et al. | 2013 | American journal of public health |
| 23948321 | Genetic analyses of the human eye colours using a novel objective method for eye colour classification. | Andersen JD et al. | 2013 | Forensic science international. Genetics |
| 24270849 | Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. | Denny JC et al. | 2013 | Nature biotechnology |
| 24387780 | Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation. | Visser M et al. | 2014 | Pigment cell & melanoma research |
| 24614105 | HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. | Stadhouders R et al. | 2014 | The Journal of clinical investigation |
| 24631691 | The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model. | Pietroni C et al. | 2014 | Forensic science international. Genetics |
| 24661571 | Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'. | Zhang X et al. | 2014 | Trends in genetics |
| 24681889 | The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction. | Pośpiech E et al. | 2014 | Forensic science international. Genetics |
| 24763138 | Genomic analysis of the blood attributed to Louis XVI (1754-1793), king of France. | Olalde I et al. | 2014 | Scientific reports |
| 24809478 | Implications of the admixture process in skin color molecular assessment. | Cerqueira CC et al. | 2014 | PloS one |
| 24880832 | Collaborative EDNAP exercise on the IrisPlex system for DNA-based prediction of human eye colour. | Chaitanya L et al. | 2014 | Forensic science international. Genetics |
| 24924479 | Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children. | Bonilla C et al. | 2014 | BMC public health |
| 25125603 | Sunlight exposure, pigmentation, and incident age-related macular degeneration. | Klein BE et al. | 2014 | Investigative ophthalmology & visual science |
| 25376095 | Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa. | Alkan C et al. | 2014 | BMC genomics |
| 25410285 | Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes. | Barón AE et al. | 2014 | Cancer epidemiology, biomarkers & prevention |
| 25918132 | Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. | Yucesoy B et al. | 2015 | Toxicological sciences |
| 26249223 | Reasoning over genetic variance information in cause-and-effect models of neurodegenerative diseases. | Naz M et al. | 2016 | Briefings in bioinformatics |
| 26286644 | The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population. | Caliebe A et al. | 2016 | European journal of human genetics |
| 26547235 | Crowdsourced direct-to-consumer genomic analysis of a family quartet. | Corpas M et al. | 2015 | BMC genomics |
| 26547379 | Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms. | Edwards M et al. | 2016 | Pigment cell & melanoma research |
| 26595274 | Genome-wide patterns of selection in 230 ancient Eurasians. | Mathieson I et al. | 2015 | Nature |
| 26690364 | Genetic differences among ethnic groups. | Huang T et al. | 2015 | BMC genomics |
| 26848990 | Biochip-Based Genotyping Assay for Detection of Polymorphisms in Pigmentation Genes Associated with Cutaneous Melanoma. | Fesenko DO et al. | 2016 | Genetic testing and molecular biomarkers |
| 26870082 | Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci. | Shen C et al. | 2016 | Frontiers in genetics |
| 26926045 | A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. | Adhikari K et al. | 2016 | Nature communications |
| 26988143 | Human adaptation and population differentiation in the light of ancient genomes. | Key FM et al. | 2016 | Nature communications |
| 27055116 | Allelic Imbalance in Regulation of ANRIL through Chromatin Interaction at 9p21 Endometriosis Risk Locus. | Nakaoka H et al. | 2016 | PLoS genetics |
| 27081560 | Distribution of two OCA2 polymorphisms associated with pigmentation in East-Asian populations. | Murray N et al. | 2015 | Human genome variation |
| 27135931 | The genetic history of Ice Age Europe. | Fu Q et al. | 2016 | Nature |
| 27221533 | Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics. | Pośpiech E et al. | 2016 | International journal of legal medicine |
| 27274049 | Early farmers from across Europe directly descended from Neolithic Aegeans. | Hofmanová Z et al. | 2016 | Proceedings of the National Academy of Sciences of the United States of America |
| 27435525 | Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation. | Norton HL et al. | 2016 | American journal of physical anthropology |
| 27458546 | Synergistic association of STX1A and VAMP2 with cryptogenic epilepsy in North Indian population. | Baghel R et al. | 2016 | Brain and behavior |
| 27468418 | Importance of nonsynonymous OCA2 variants in human eye color prediction. | Andersen JD et al. | 2016 | Molecular genetics & genomic medicine |
| 27499155 | Genetic markers of pigmentation are novel risk loci for uveal melanoma. | Ferguson R et al. | 2016 | Scientific reports |
| 27539887 | Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. | Chahal HS et al. | 2016 | Nature communications |
| 27760139 | Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin. | Kita R et al. | 2016 | PLoS genetics |
| 28242083 | Association of five SNPs with human hair colour in the Polish population. | Siewierska-Górska A et al. | 2017 | Homo |
| 28456133 | Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs. | Wei L et al. | 2017 | The British journal of dermatology |
| 29315480 | Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study. | Laino AM et al. | 2018 | The British journal of dermatology |
| 29658972 | Genetic and phenotypic variability of iris color in Buenos Aires population. | Hohl DM et al. | 2018 | Genetics and molecular biology |
| 29974532 | Genetic variants associated with skin photosensitivity in a southern European population from Spain. | Hernando B et al. | 2018 | Photodermatology, photoimmunology & photomedicine |
| 30087317 | Genetic association and meta-analysis of a schizophrenia GWAS variant rs10489202 in East Asian populations. | Yang Y et al. | 2018 | Translational psychiatry |
| 30359302 | PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants. | Bodea CA et al. | 2018 | Genome biology |
| 30895295 | A Genome-Wide Association Study of Skin and Iris Pigmentation among Individuals of South Asian Ancestry. | Jonnalagadda M et al. | 2019 | Genome biology and evolution |
| 30980179 | Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches. | Zaorska K et al. | 2019 | Human genetics |
| 31315583 | Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations. | Lona-Durazo F et al. | 2019 | BMC genetics |
| 31762634 | Eye color prediction using single nucleotide polymorphisms in Saudi population. | Alghamdi J et al. | 2019 | Saudi journal of biological sciences |
| 32121219 | Environmental UVR Levels and Skin Pigmentation Gene Variants Associated with Folate and Homocysteine Levels in an Elderly Cohort. | Jones P et al. | 2020 | International journal of environmental research and public health |
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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.