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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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

rs12913832

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr15:28120472 (GRCh38.p12) Help

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

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.45329 (56919/125568, TOPMED)
G=0.1647 (12966/78702, PAGE_STUDY)
A=0.4374 (13719/31364, GnomAD) (+ 5 more)
G=0.177 (888/5008, 1000G)
A=0.083 (372/4480, Estonian)
A=0.230 (887/3854, ALSPAC)
A=0.230 (851/3708, TWINSUK)
A=0.12 (75/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
HERC2 : Intron Variant
Publications
95 citations
Genomic View
See rs on genome
Help

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

Genomic Placements
Sequence name Change
GRCh38.p12 chr 15 NC_000015.10:g.28120472A>G
GRCh37.p13 chr 15 NC_000015.9:g.28365618A>G
HERC2 RefSeqGene NG_016355.1:g.206678T>C
chr 15 fix patch HG2139_PATCH NW_011332701.1:g.253911G>A
GRCh38.p12 chr 15 alt locus HSCHR15_4_CTG8 NT_187660.1:g.253911G>A
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_004667.5:c. N/A Intron Variant
HERC2 transcript variant X3 XM_005268276.5:c. N/A Intron Variant
HERC2 transcript variant X1 XM_006720726.3:c. N/A Intron Variant
HERC2 transcript variant X5 XM_006720727.3:c. N/A Intron Variant
HERC2 transcript variant X2 XM_017022695.1:c. N/A Intron Variant
HERC2 transcript variant X4 XM_017022696.1:c. N/A Intron Variant
HERC2 transcript variant X8 XM_017022697.1:c. N/A Intron Variant
HERC2 transcript variant X9 XM_017022698.1:c. N/A Intron Variant
HERC2 transcript variant X7 XR_001751410.1:n. N/A Genic Downstream Transcript Variant
HERC2 transcript variant X6 XR_931930.2:n. 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
RCV000005011.4 Skin/hair/eye pigmentation, variation in, 1 Association
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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 125568 A=0.54671 G=0.45329
The PAGE Study Global Study-wide 78702 A=0.8353 G=0.1647
The PAGE Study AfricanAmerican Sub 32516 A=0.8537 G=0.1463
The PAGE Study Mexican Sub 10810 A=0.8083 G=0.1917
The PAGE Study Asian Sub 8318 A=0.997 G=0.003
The PAGE Study PuertoRican Sub 7918 A=0.761 G=0.239
The PAGE Study NativeHawaiian Sub 4534 A=0.836 G=0.164
The PAGE Study Cuban Sub 4230 A=0.711 G=0.289
The PAGE Study Dominican Sub 3828 A=0.816 G=0.184
The PAGE Study CentralAmerican Sub 2450 A=0.824 G=0.176
The PAGE Study SouthAmerican Sub 1982 A=0.788 G=0.212
The PAGE Study NativeAmerican Sub 1260 A=0.522 G=0.478
The PAGE Study SouthAsian Sub 856 A=0.89 G=0.11
gnomAD - Genomes Global Study-wide 31364 A=0.4374 G=0.5626
gnomAD - Genomes European Sub 18892 A=0.1814 G=0.8186
gnomAD - Genomes African Sub 8690 A=0.875 G=0.125
gnomAD - Genomes East Asian Sub 1558 A=0.999 G=0.001
gnomAD - Genomes Other Sub 1086 A=0.314 G=0.686
gnomAD - Genomes American Sub 848 A=0.78 G=0.22
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.45 G=0.55
1000Genomes Global Study-wide 5008 A=0.823 G=0.177
1000Genomes African Sub 1322 A=0.972 G=0.028
1000Genomes East Asian Sub 1008 A=0.998 G=0.002
1000Genomes Europe Sub 1006 A=0.364 G=0.636
1000Genomes South Asian Sub 978 A=0.93 G=0.07
1000Genomes American Sub 694 A=0.80 G=0.20
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.083 G=0.917
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.230 G=0.770
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.230 G=0.770
Northern Sweden ACPOP Study-wide 600 A=0.12 G=0.88
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= G Note
GRCh38.p12 chr 15 NC_000015.10:g.28120472= NC_000015.10:g.28120472A>G
GRCh37.p13 chr 15 NC_000015.9:g.28365618= NC_000015.9:g.28365618A>G
HERC2 RefSeqGene NG_016355.1:g.206678= NG_016355.1:g.206678T>C
chr 15 fix patch HG2139_PATCH NW_011332701.1:g.253911G>A NW_011332701.1:g.253911=
GRCh38.p12 chr 15 alt locus HSCHR15_4_CTG8 NT_187660.1:g.253911G>A NT_187660.1:g.253911=
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#.

116 SubSNP, 8 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 TOPMED ss2370067397 Dec 20, 2016 (150)
67 ILLUMINA ss2633208764 Nov 08, 2017 (151)
68 ILLUMINA ss2633208765 Nov 08, 2017 (151)
69 ILLUMINA ss2633208766 Nov 08, 2017 (151)
70 ILLUMINA ss2635056531 Nov 08, 2017 (151)
71 GRF ss2701147209 Nov 08, 2017 (151)
72 GNOMAD ss2932991548 Nov 08, 2017 (151)
73 AFFY ss2985035089 Nov 08, 2017 (151)
74 AFFY ss2985667530 Nov 08, 2017 (151)
75 SWEGEN ss3013006620 Nov 08, 2017 (151)
76 ILLUMINA ss3021616301 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3027969856 Nov 08, 2017 (151)
78 TOPMED ss3223244426 Nov 08, 2017 (151)
79 CSHL ss3351042102 Nov 08, 2017 (151)
80 ILLUMINA ss3627323443 Oct 12, 2018 (152)
81 ILLUMINA ss3627323444 Oct 12, 2018 (152)
82 ILLUMINA ss3631203083 Oct 12, 2018 (152)
83 ILLUMINA ss3633091657 Oct 12, 2018 (152)
84 ILLUMINA ss3633796008 Oct 12, 2018 (152)
85 ILLUMINA ss3634597992 Oct 12, 2018 (152)
86 ILLUMINA ss3634597993 Oct 12, 2018 (152)
87 ILLUMINA ss3635485080 Oct 12, 2018 (152)
88 ILLUMINA ss3636288277 Oct 12, 2018 (152)
89 ILLUMINA ss3637236311 Oct 12, 2018 (152)
90 ILLUMINA ss3638075923 Oct 12, 2018 (152)
91 ILLUMINA ss3639051385 Oct 12, 2018 (152)
92 ILLUMINA ss3639835015 Oct 12, 2018 (152)
93 ILLUMINA ss3640305319 Oct 12, 2018 (152)
94 ILLUMINA ss3640305320 Oct 12, 2018 (152)
95 ILLUMINA ss3643060630 Oct 12, 2018 (152)
96 ILLUMINA ss3643885259 Oct 12, 2018 (152)
97 ILLUMINA ss3644641639 Oct 12, 2018 (152)
98 URBANLAB ss3650317227 Oct 12, 2018 (152)
99 ILLUMINA ss3652015645 Oct 12, 2018 (152)
100 ILLUMINA ss3652015646 Oct 12, 2018 (152)
101 ILLUMINA ss3653806811 Oct 12, 2018 (152)
102 EGCUT_WGS ss3680178183 Jul 13, 2019 (153)
103 EVA_DECODE ss3697585260 Jul 13, 2019 (153)
104 ILLUMINA ss3725484806 Jul 13, 2019 (153)
105 ACPOP ss3740787487 Jul 13, 2019 (153)
106 ILLUMINA ss3744417217 Jul 13, 2019 (153)
107 ILLUMINA ss3744898557 Jul 13, 2019 (153)
108 ILLUMINA ss3744898558 Jul 13, 2019 (153)
109 EVA ss3752891785 Jul 13, 2019 (153)
110 PAGE_CC ss3771818516 Jul 13, 2019 (153)
111 ILLUMINA ss3772397273 Jul 13, 2019 (153)
112 ILLUMINA ss3772397274 Jul 13, 2019 (153)
113 PACBIO ss3787801170 Jul 13, 2019 (153)
114 PACBIO ss3792820396 Jul 13, 2019 (153)
115 PACBIO ss3797704857 Jul 13, 2019 (153)
116 KHV_HUMAN_GENOMES ss3818208952 Jul 13, 2019 (153)
117 1000Genomes NC_000015.9 - 28365618 Oct 12, 2018 (152)
118 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 28365618 Oct 12, 2018 (152)
119 Genetic variation in the Estonian population NC_000015.9 - 28365618 Oct 12, 2018 (152)
120 gnomAD - Genomes NC_000015.9 - 28365618 Jul 13, 2019 (153)
121 Northern Sweden NC_000015.9 - 28365618 Jul 13, 2019 (153)
122 The PAGE Study NC_000015.10 - 28120472 Jul 13, 2019 (153)
123 TopMed NC_000015.10 - 28120472 Oct 12, 2018 (152)
124 UK 10K study - Twins NC_000015.9 - 28365618 Oct 12, 2018 (152)
125 ClinVar RCV000005011.4 Oct 12, 2018 (152)
Help

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

Associated ID History Updated (Build)
rs60078917 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss76638055, ss77177049, ss90103967, ss108696416, ss160306433, ss167716482, ss170884602, ss207242546, ss254862258, ss286924734, ss291808328, ss410902716, ss479840369, ss1695636283, ss1713477662, ss2635056531, ss3639051385, ss3639835015, ss3643060630, ss3643885259 NC_000015.8:26039212:A:G NC_000015.10:28120471:A:G (self)
65869992, 36575990, 25916431, 179699651, 14072352, 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, ss2370067397, ss2633208764, ss2633208765, ss2633208766, ss2701147209, ss2932991548, 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 NC_000015.9:28365617:A:G NC_000015.10:28120471:A:G (self)
RCV000005011.4, 1039985, 125931534, ss1505810804, ss2205531722, ss3027969856, ss3223244426, ss3650317227, ss3697585260, ss3725484806, ss3771818516, ss3818208952 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)
Help

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

95 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

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

Software version is: 2.0.1.post104+4a6ee9c