Skip to main page content
Accesskeys

dbSNP Short Genetic Variations

Reference SNP (rs) Report

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

rs1042602

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr11:89178528 (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
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.25452 (62671/246234, GnomAD)
A=0.24629 (30926/125568, TOPMED)
A=0.25182 (30570/121396, ExAC) (+ 5 more)
A=0.2157 (6668/30908, GnomAD)
A=0.123 (618/5008, 1000G)
A=0.212 (948/4480, Estonian)
A=0.375 (1445/3854, ALSPAC)
A=0.376 (1396/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TYR : Missense Variant
LOC107984363 : Intron Variant
Publications
34 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 11 NC_000011.10:g.89178528C>A
GRCh37.p13 chr 11 NC_000011.9:g.88911696C>A
TYR RefSeqGene NG_008748.1:g.5657C>A
Gene: TYR, tyrosinase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TYR transcript NM_000372.4:c.575C>A S [TCT] > Y [TAT] Coding Sequence Variant
tyrosinase precursor NP_000363.1:p.Ser192Tyr S (Ser) > Y (Tyr) Missense Variant
TYR transcript variant X1 XM_011542970.2:c.575C>A S [TCT] > Y [TAT] Coding Sequence Variant
tyrosinase isoform X1 XP_011541272.1:p.Ser192Tyr S (Ser) > Y (Tyr) Missense Variant
Gene: LOC107984363, uncharacterized LOC107984363 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107984363 transcript variant X1 XR_001748321.1:n. N/A Intron Variant
LOC107984363 transcript variant X2 XR_001748322.1:n. N/A Intron 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: A (allele ID: 18817 )
ClinVar Accession Disease Names Clinical Significance
RCV000003977.5 Skin/hair/eye pigmentation, variation in, 3 Association
RCV000055807.1 Tyrosinase-negative oculocutaneous albinism Benign
RCV000085955.1 not provided Not-Provided
RCV000173114.2 not specified Benign
RCV000341159.1 Oculocutaneous albinism Likely-Benign
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 246234 C=0.74548 A=0.25452
gnomAD - Exomes European Sub 133986 C=0.66202 A=0.33798
gnomAD - Exomes Asian Sub 48028 C=0.9281 A=0.0719
gnomAD - Exomes American Sub 33582 C=0.7944 A=0.2056
gnomAD - Exomes African Sub 15304 C=0.9415 A=0.0585
gnomAD - Exomes Ashkenazi Jewish Sub 9850 C=0.550 A=0.450
gnomAD - Exomes Other Sub 5484 C=0.689 A=0.311
TopMed Global Study-wide 125568 C=0.75371 A=0.24629
ExAC Global Study-wide 121396 C=0.74818 A=0.25182
ExAC Europe Sub 73342 C=0.6504 A=0.3496
ExAC Asian Sub 25166 C=0.9286 A=0.0714
ExAC American Sub 11574 C=0.8082 A=0.1918
ExAC African Sub 10406 C=0.9380 A=0.0620
ExAC Other Sub 908 C=0.71 A=0.29
gnomAD - Genomes Global Study-wide 30908 C=0.7843 A=0.2157
gnomAD - Genomes European Sub 18462 C=0.7009 A=0.2991
gnomAD - Genomes African Sub 8722 C=0.933 A=0.067
gnomAD - Genomes East Asian Sub 1608 C=0.999 A=0.001
gnomAD - Genomes Other Sub 980 C=0.77 A=0.23
gnomAD - Genomes American Sub 834 C=0.77 A=0.23
gnomAD - Genomes Ashkenazi Jewish Sub 302 C=0.54 A=0.46
1000Genomes Global Study-wide 5008 C=0.877 A=0.123
1000Genomes African Sub 1322 C=0.988 A=0.012
1000Genomes East Asian Sub 1008 C=0.999 A=0.001
1000Genomes Europe Sub 1006 C=0.628 A=0.372
1000Genomes South Asian Sub 978 C=0.94 A=0.06
1000Genomes American Sub 694 C=0.76 A=0.24
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.788 A=0.212
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.625 A=0.375
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.624 A=0.376
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A Note
GRCh38.p12 chr 11 NC_000011.10:g.89178528C= NC_000011.10:g.89178528C>A
GRCh37.p13 chr 11 NC_000011.9:g.88911696C= NC_000011.9:g.88911696C>A
TYR RefSeqGene NG_008748.1:g.5657C= NG_008748.1:g.5657C>A
TYR transcript NM_000372.4:c.575C= NM_000372.4:c.575C>A
TYR transcript variant X1 XM_011542970.2:c.575C= XM_011542970.2:c.575C>A
tyrosinase precursor NP_000363.1:p.Ser192= NP_000363.1:p.Ser192Tyr
tyrosinase isoform X1 XP_011541272.1:p.Ser192= XP_011541272.1:p.Ser192Tyr
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#.

118 SubSNP, 8 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 LEE ss1509962 Oct 05, 2000 (86)
2 HGBASE ss2421223 Nov 14, 2000 (89)
3 PSU-ANTH ss4387030 Apr 11, 2002 (104)
4 LEE ss4403974 May 29, 2002 (106)
5 PERLEGEN ss24427553 Sep 20, 2004 (123)
6 SNP500CANCER ss48297599 Mar 13, 2006 (126)
7 APPLERA_GI ss48417754 Mar 13, 2006 (126)
8 ILLUMINA ss65724634 Oct 16, 2006 (127)
9 ILLUMINA ss66600383 Dec 01, 2006 (127)
10 ILLUMINA ss66882688 Dec 01, 2006 (127)
11 ILLUMINA ss66976124 Dec 01, 2006 (127)
12 PERLEGEN ss69323975 May 17, 2007 (127)
13 ILLUMINA ss70365474 May 17, 2007 (127)
14 ILLUMINA ss70478399 May 27, 2008 (130)
15 ILLUMINA ss71001701 May 17, 2007 (127)
16 AFFY ss74808468 Aug 16, 2007 (128)
17 ILLUMINA ss75449478 Dec 06, 2007 (129)
18 AFFY ss76462710 Dec 06, 2007 (129)
19 KRIBB_YJKIM ss83672214 Dec 16, 2007 (130)
20 SALONSO ss86351981 Mar 23, 2008 (129)
21 BCMHGSC_JDW ss88683920 Mar 24, 2008 (129)
22 ILLUMINA ss120037175 Dec 01, 2009 (131)
23 ILLUMINA ss121304561 Dec 01, 2009 (131)
24 ENSEMBL ss132714928 Dec 01, 2009 (131)
25 ILLUMINA ss152723576 Dec 01, 2009 (131)
26 ILLUMINA ss159123133 Dec 01, 2009 (131)
27 SEATTLESEQ ss159724521 Dec 01, 2009 (131)
28 ILLUMINA ss159892508 Dec 01, 2009 (131)
29 COMPLETE_GENOMICS ss168664954 Jul 04, 2010 (132)
30 ILLUMINA ss169381700 Jul 04, 2010 (132)
31 ILLUMINA ss170063740 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss175224925 Jul 04, 2010 (132)
33 BCM-HGSC-SUB ss207517449 Jul 04, 2010 (132)
34 1000GENOMES ss235654663 Jul 15, 2010 (132)
35 OMICIA ss244239055 May 27, 2010 (132)
36 OMIM-CURATED-RECORDS ss262857360 Sep 17, 2010 (132)
37 NHLBI-ESP ss342337916 May 09, 2011 (134)
38 ILLUMINA ss410886688 Sep 17, 2011 (135)
39 ILLUMINA ss479263930 May 04, 2012 (137)
40 ILLUMINA ss479266863 May 04, 2012 (137)
41 ILLUMINA ss479635884 Sep 08, 2015 (146)
42 ILLUMINA ss484432638 May 04, 2012 (137)
43 1000GENOMES ss491026881 May 04, 2012 (137)
44 EXOME_CHIP ss491457240 May 04, 2012 (137)
45 CLINSEQ_SNP ss491651940 May 04, 2012 (137)
46 ILLUMINA ss536604046 Sep 08, 2015 (146)
47 RISN-LSDB ss562053314 Dec 21, 2012 (137)
48 SSMP ss658238943 Apr 25, 2013 (138)
49 ILLUMINA ss778355596 Sep 08, 2015 (146)
50 ILLUMINA ss780902527 Sep 08, 2015 (146)
51 ILLUMINA ss782662785 Sep 08, 2015 (146)
52 ILLUMINA ss783589716 Sep 08, 2015 (146)
53 ILLUMINA ss783631681 Sep 08, 2015 (146)
54 ILLUMINA ss825335205 Apr 01, 2015 (144)
55 ILLUMINA ss831913314 Sep 08, 2015 (146)
56 ILLUMINA ss833810336 Sep 08, 2015 (146)
57 JMKIDD_LAB ss974480703 Aug 21, 2014 (142)
58 EVA-GONL ss988793240 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1067527099 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1077918987 Aug 21, 2014 (142)
61 1000GENOMES ss1342326273 Aug 21, 2014 (142)
62 HAMMER_LAB ss1397612445 Sep 08, 2015 (146)
63 DDI ss1426708318 Apr 01, 2015 (144)
64 EVA_GENOME_DK ss1575853951 Apr 01, 2015 (144)
65 EVA_FINRISK ss1584077362 Apr 01, 2015 (144)
66 EVA_DECODE ss1598456321 Apr 01, 2015 (144)
67 EVA_UK10K_ALSPAC ss1627129220 Apr 01, 2015 (144)
68 EVA_UK10K_TWINSUK ss1670123253 Apr 01, 2015 (144)
69 EVA_EXAC ss1690580410 Apr 01, 2015 (144)
70 EVA_MGP ss1711304821 Apr 01, 2015 (144)
71 EVA_SVP ss1713272611 Apr 01, 2015 (144)
72 ILLUMINA ss1752037639 Sep 08, 2015 (146)
73 ILLUMINA ss1752037640 Sep 08, 2015 (146)
74 ILLUMINA ss1917864807 Feb 12, 2016 (147)
75 WEILL_CORNELL_DGM ss1932152387 Feb 12, 2016 (147)
76 ILLUMINA ss1946318700 Feb 12, 2016 (147)
77 ILLUMINA ss1959373647 Feb 12, 2016 (147)
78 JJLAB ss2026819047 Sep 14, 2016 (149)
79 ILLUMINA ss2094791555 Dec 20, 2016 (150)
80 ILLUMINA ss2095025029 Dec 20, 2016 (150)
81 USC_VALOUEV ss2155130961 Dec 20, 2016 (150)
82 HUMAN_LONGEVITY ss2184417924 Dec 20, 2016 (150)
83 TOPMED ss2347957589 Dec 20, 2016 (150)
84 ILLUMINA ss2632864406 Nov 08, 2017 (151)
85 ILLUMINA ss2632864407 Nov 08, 2017 (151)
86 ILLUMINA ss2635028883 Nov 08, 2017 (151)
87 GNOMAD ss2739304638 Nov 08, 2017 (151)
88 GNOMAD ss2748714388 Nov 08, 2017 (151)
89 GNOMAD ss2902648634 Nov 08, 2017 (151)
90 AFFY ss2984952675 Nov 08, 2017 (151)
91 AFFY ss2985595455 Nov 08, 2017 (151)
92 SWEGEN ss3008519797 Nov 08, 2017 (151)
93 ILLUMINA ss3021362210 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3027207028 Nov 08, 2017 (151)
95 TOPMED ss3152239897 Nov 08, 2017 (151)
96 CSHL ss3349717505 Nov 08, 2017 (151)
97 ILLUMINA ss3625606505 Oct 12, 2018 (152)
98 ILLUMINA ss3626713687 Oct 12, 2018 (152)
99 ILLUMINA ss3626713688 Oct 12, 2018 (152)
100 ILLUMINA ss3630879658 Oct 12, 2018 (152)
101 ILLUMINA ss3632993957 Oct 12, 2018 (152)
102 ILLUMINA ss3633693707 Oct 12, 2018 (152)
103 ILLUMINA ss3634468152 Oct 12, 2018 (152)
104 ILLUMINA ss3634468153 Oct 12, 2018 (152)
105 ILLUMINA ss3635385117 Oct 12, 2018 (152)
106 ILLUMINA ss3636151761 Oct 12, 2018 (152)
107 ILLUMINA ss3637136012 Oct 12, 2018 (152)
108 ILLUMINA ss3637921780 Oct 12, 2018 (152)
109 ILLUMINA ss3638974564 Oct 12, 2018 (152)
110 ILLUMINA ss3639488365 Oct 12, 2018 (152)
111 ILLUMINA ss3640175491 Oct 12, 2018 (152)
112 ILLUMINA ss3640175492 Oct 12, 2018 (152)
113 ILLUMINA ss3642918919 Oct 12, 2018 (152)
114 ILLUMINA ss3644571544 Oct 12, 2018 (152)
115 OMUKHERJEE_ADBS ss3646431081 Oct 12, 2018 (152)
116 ILLUMINA ss3651728699 Oct 12, 2018 (152)
117 ILLUMINA ss3651728700 Oct 12, 2018 (152)
118 ILLUMINA ss3653725013 Oct 12, 2018 (152)
119 1000Genomes NC_000011.9 - 88911696 Oct 12, 2018 (152)
120 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 88911696 Oct 12, 2018 (152)
121 Genetic variation in the Estonian population NC_000011.9 - 88911696 Oct 12, 2018 (152)
122 ExAC NC_000011.9 - 88911696 Oct 12, 2018 (152)
123 gnomAD - Genomes NC_000011.9 - 88911696 Oct 12, 2018 (152)
124 gnomAD - Exomes NC_000011.9 - 88911696 Oct 12, 2018 (152)
125 TopMed NC_000011.10 - 89178528 Oct 12, 2018 (152)
126 UK 10K study - Twins NC_000011.9 - 88911696 Oct 12, 2018 (152)
127 ClinVar RCV000003977.5 Oct 12, 2018 (152)
128 ClinVar RCV000055807.1 Oct 12, 2018 (152)
129 ClinVar RCV000085955.1 Oct 12, 2018 (152)
130 ClinVar RCV000173114.2 Oct 12, 2018 (152)
131 ClinVar RCV000341159.1 Oct 12, 2018 (152)
Help

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

Associated ID History Updated (Build)
rs3182060 Jul 03, 2002 (106)
rs17253016 Oct 08, 2004 (123)
rs52836989 Sep 21, 2007 (128)
rs61569485 Feb 27, 2009 (130)
rs386512913 Aug 06, 2014 (136)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss88683920, ss168664954, ss175224925, ss207517449, ss479263930, ss491651940, ss825335205, ss1397612445, ss1598456321, ss1713272611, ss2635028883, ss3638974564, ss3639488365, ss3642918919 NC_000011.8:88551343:C= NC_000011.10:89178527:C= (self)
54884639, 30465804, 21579529, 851687, 36350156, 6738986, 30465804, ss235654663, ss342337916, ss479266863, ss479635884, ss484432638, ss491026881, ss491457240, ss536604046, ss658238943, ss778355596, ss780902527, ss782662785, ss783589716, ss783631681, ss831913314, ss833810336, ss974480703, ss988793240, ss1067527099, ss1077918987, ss1342326273, ss1426708318, ss1575853951, ss1584077362, ss1627129220, ss1670123253, ss1690580410, ss1711304821, ss1752037639, ss1752037640, ss1917864807, ss1932152387, ss1946318700, ss1959373647, ss2026819047, ss2094791555, ss2095025029, ss2155130961, ss2347957589, ss2632864406, ss2632864407, ss2739304638, ss2748714388, ss2902648634, ss2984952675, ss2985595455, ss3008519797, ss3021362210, ss3349717505, ss3625606505, ss3626713687, ss3626713688, ss3630879658, ss3632993957, ss3633693707, ss3634468152, ss3634468153, ss3635385117, ss3636151761, ss3637136012, ss3637921780, ss3640175491, ss3640175492, ss3644571544, ss3646431081, ss3651728699, ss3651728700, ss3653725013 NC_000011.9:88911695:C= NC_000011.10:89178527:C= (self)
68968116, ss244239055, ss262857360, ss562053314, ss2184417924, ss3027207028, ss3152239897 NC_000011.10:89178527:C= NC_000011.10:89178527:C= (self)
ss1509962, ss2421223, ss4387030, ss4403974, ss24427553, ss48297599, ss48417754, ss65724634, ss66600383, ss66882688, ss66976124, ss69323975, ss70365474, ss70478399, ss71001701, ss74808468, ss75449478, ss76462710, ss83672214, ss86351981, ss120037175, ss121304561, ss132714928, ss152723576, ss159123133, ss159724521, ss159892508, ss169381700, ss170063740, ss410886688 NT_167190.1:34217490:C= NC_000011.10:89178527:C= (self)
ss88683920, ss168664954, ss175224925, ss207517449, ss479263930, ss491651940, ss825335205, ss1397612445, ss1598456321, ss1713272611, ss2635028883, ss3638974564, ss3639488365, ss3642918919 NC_000011.8:88551343:C>A NC_000011.10:89178527:C>A (self)
54884639, 30465804, 21579529, 851687, 36350156, 6738986, 30465804, ss235654663, ss342337916, ss479266863, ss479635884, ss484432638, ss491026881, ss491457240, ss536604046, ss658238943, ss778355596, ss780902527, ss782662785, ss783589716, ss783631681, ss831913314, ss833810336, ss974480703, ss988793240, ss1067527099, ss1077918987, ss1342326273, ss1426708318, ss1575853951, ss1584077362, ss1627129220, ss1670123253, ss1690580410, ss1711304821, ss1752037639, ss1752037640, ss1917864807, ss1932152387, ss1946318700, ss1959373647, ss2026819047, ss2094791555, ss2095025029, ss2155130961, ss2347957589, ss2632864406, ss2632864407, ss2739304638, ss2748714388, ss2902648634, ss2984952675, ss2985595455, ss3008519797, ss3021362210, ss3349717505, ss3625606505, ss3626713687, ss3626713688, ss3630879658, ss3632993957, ss3633693707, ss3634468152, ss3634468153, ss3635385117, ss3636151761, ss3637136012, ss3637921780, ss3640175491, ss3640175492, ss3644571544, ss3646431081, ss3651728699, ss3651728700, ss3653725013 NC_000011.9:88911695:C>A NC_000011.10:89178527:C>A (self)
RCV000003977.5, RCV000055807.1, RCV000085955.1, RCV000173114.2, RCV000341159.1, 68968116, ss244239055, ss262857360, ss562053314, ss2184417924, ss3027207028, ss3152239897 NC_000011.10:89178527:C>A NC_000011.10:89178527:C>A (self)
ss1509962, ss2421223, ss4387030, ss4403974, ss24427553, ss48297599, ss48417754, ss65724634, ss66600383, ss66882688, ss66976124, ss69323975, ss70365474, ss70478399, ss71001701, ss74808468, ss75449478, ss76462710, ss83672214, ss86351981, ss120037175, ss121304561, ss132714928, ss152723576, ss159123133, ss159724521, ss159892508, ss169381700, ss170063740, ss410886688 NT_167190.1:34217490:C>A NC_000011.10:89178527:C>A (self)
Help

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

34 citations for rs1042602
PMID Title Author Year Journal
15660291 Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study. Reiner AP et al. 2005 American journal of human genetics
16595073 Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations. Savas S et al. 2006 Human genomics
17952075 Genetic determinants of hair, eye and skin pigmentation in Europeans. Sulem P et al. 2007 Nature genetics
17999355 A genomewide association study of skin pigmentation in a South Asian population. Stokowski RP et al. 2007 American journal of human genetics
18282109 Adaptations to climate in candidate genes for common metabolic disorders. Hancock AM et al. 2008 PLoS genetics
18654799 Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease. Keene KL et al. 2008 Human genetics
19384953 Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Nan H et al. 2009 International journal of cancer
19474294 Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Hindorff LA et al. 2009 Proceedings of the National Academy of Sciences of the United States of America
19578364 Genome-wide association study identifies three loci associated with melanoma risk. Bishop DT et al. 2009 Nature genetics
19586928 Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease. Scherer ML et al. 2010 Journal of medical genetics
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
19863770 Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies. Udayakumar D et al. 2009 Genome medicine
20021678 Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study. Mez JB et al. 2009 BMC research notes
20301345 Oculocutaneous Albinism Type 1 Lewis RA et al. 1993 GeneReviews®
20546537 Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. Gerstenblith MR et al. 2010 Pigment cell & melanoma research
20585627 Web-based, participant-driven studies yield novel genetic associations for common traits. Eriksson N et al. 2010 PLoS genetics
21197618 Model-based prediction of human hair color using DNA variants. Branicki W et al. 2011 Human genetics
21273692 Comparing genetic ancestry and self-reported race/ethnicity in a multiethnic population in New York City. Lee YL et al. 2010 Journal of genetics
21592109 Wide disparity in genetic admixture among Mexican Americans from San Antonio, TX. Beuten J et al. 2011 Annals of human genetics
21926416 Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Amos CI et al. 2011 Human molecular 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
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
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
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
24809478 Implications of the admixture process in skin color molecular assessment. Cerqueira CC et al. 2014 PloS one
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
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
25887915 Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan. Ilyas M et al. 2015 BMC genomics
26547235 Crowdsourced direct-to-consumer genomic analysis of a family quartet. Corpas M et al. 2015 BMC genomics
26918427 Association of genetic variants with skin pigmentation phenotype among populations of west Maharashtra, India. Jonnalagadda M et al. 2016 American journal of human biology
26921301 Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes. Tiosano D et al. 2016 G3 (Bethesda, Md.)
26998216 Sex-specific genetic effects associated with pigmentation, sensitivity to sunlight, and melanoma in a population of Spanish origin. Hernando B et al. 2016 Biology of sex differences
29518100 Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels. Nair-Shalliker V et al. 2018 PloS one

Genomic regions, transcripts, and products
Top Help

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

Software version is: 2.0.1.post58+e54ea20