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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.


Current Build 153

Released July 9, 2019

Homo sapiens
chr5:33951588 (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.

C>A / C>G
Variation Type
SNV Single Nucleotide Variation
C=0.35496 (89244/251420, GnomAD_exome)
C=0.39505 (49606/125568, TOPMED)
C=0.35970 (43630/121296, ExAC) (+ 6 more)
C=0.3238 (10150/31344, GnomAD)
G=0.275 (1377/5008, 1000G)
C=0.017 (74/4480, Estonian)
C=0.035 (134/3854, ALSPAC)
C=0.029 (107/3708, TWINSUK)
C=0.03 (18/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLC45A2 : Missense Variant
69 citations
Genomic View
See rs on genome

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 5 NC_000005.10:g.33951588C>A
GRCh38.p12 chr 5 NC_000005.10:g.33951588C>G
GRCh37.p13 chr 5 NC_000005.9:g.33951693C>A
GRCh37.p13 chr 5 NC_000005.9:g.33951693C>G
SLC45A2 RefSeqGene NG_011691.2:g.38088C>G
SLC45A2 RefSeqGene NG_011691.2:g.38088C>T
GRCh38.p12 chr 5 alt locus HSCHR5_6_CTG1 NT_187551.1:g.152910C>A
GRCh38.p12 chr 5 alt locus HSCHR5_6_CTG1 NT_187551.1:g.152910C>G
Gene: SLC45A2, solute carrier family 45 member 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC45A2 transcript variant 3 NM_001297417.3:c. N/A 3 Prime UTR Variant
SLC45A2 transcript variant 1 NM_016180.5:c.1122G>T L [TTG] > F [TTT] Coding Sequence Variant
membrane-associated transporter protein isoform a NP_057264.4:p.Leu374Phe L (Leu) > F (Phe) Missense Variant
SLC45A2 transcript variant 1 NM_016180.5:c.1122G>C L [TTG] > F [TTC] Coding Sequence Variant
membrane-associated transporter protein isoform a NP_057264.4:p.Leu374Phe L (Leu) > F (Phe) Missense Variant
SLC45A2 transcript variant 2 NM_001012509.4:c.1122G>T L [TTG] > F [TTT] Coding Sequence Variant
membrane-associated transporter protein isoform b NP_001012527.2:p.Leu374Phe L (Leu) > F (Phe) Missense Variant
SLC45A2 transcript variant 2 NM_001012509.4:c.1122G>C L [TTG] > F [TTC] Coding Sequence Variant
membrane-associated transporter protein isoform b NP_001012527.2:p.Leu374Phe L (Leu) > F (Phe) Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C= (allele ID: 19544 )
ClinVar Accession Disease Names Clinical Significance
RCV000004763.4 Skin/hair/eye pigmentation, variation in, 5 Association
RCV000022392.1 Malignant melanoma of skin Protective
Allele: G (allele ID: 194990 )
ClinVar Accession Disease Names Clinical Significance
RCV000178963.1 not specified Benign

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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 251420 C=0.35496 G=0.64504
gnomAD - Exomes European Sub 135376 C=0.04050 G=0.95950
gnomAD - Exomes Asian Sub 49004 C=0.9388 G=0.0612
gnomAD - Exomes American Sub 34570 C=0.6186 G=0.3814
gnomAD - Exomes African Sub 16252 C=0.8522 G=0.1478
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=0.0899 G=0.9101
gnomAD - Exomes Other Sub 6140 C=0.263 G=0.737
TopMed Global Study-wide 125568 C=0.39505 G=0.60495
ExAC Global Study-wide 121296 C=0.35970 G=0.64030
ExAC Europe Sub 73320 C=0.0452 G=0.9548
ExAC Asian Sub 25132 C=0.9382 G=0.0618
ExAC American Sub 11540 C=0.6609 G=0.3391
ExAC African Sub 10396 C=0.8454 G=0.1546
ExAC Other Sub 908 C=0.35 G=0.65
gnomAD - Genomes Global Study-wide 31344 C=0.3238 G=0.6762
gnomAD - Genomes European Sub 18896 C=0.0314 G=0.9686
gnomAD - Genomes African Sub 8672 C=0.840 G=0.160
gnomAD - Genomes East Asian Sub 1556 C=0.995 G=0.005
gnomAD - Genomes Other Sub 1084 C=0.192 G=0.808
gnomAD - Genomes American Sub 848 C=0.57 G=0.43
gnomAD - Genomes Ashkenazi Jewish Sub 288 C=0.09 G=0.91
1000Genomes Global Study-wide 5008 C=0.725 G=0.275
1000Genomes African Sub 1322 C=0.964 G=0.036
1000Genomes East Asian Sub 1008 C=0.994 G=0.006
1000Genomes Europe Sub 1006 C=0.062 G=0.938
1000Genomes South Asian Sub 978 C=0.94 G=0.06
1000Genomes American Sub 694 C=0.54 G=0.46
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.017 G=0.983
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.035 G=0.965
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.029 G=0.971
Northern Sweden ACPOP Study-wide 600 C=0.03 G=0.97

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 G Note
GRCh38.p12 chr 5 NC_000005.10:g.33...






GRCh37.p13 chr 5 NC_000005.9:g.339...






SLC45A2 RefSeqGene NG_011691.2:g.380...




SLC45A2 transcript variant 1 NM_016180.5:c.1122= NM_016180.5:c.112...




SLC45A2 transcript variant 1 NM_016180.4:c.112...




SLC45A2 transcript variant 1 NM_016180.3:c.112...




SLC45A2 transcript variant 2 NM_001012509.4:c....






SLC45A2 transcript variant 2 NM_001012509.3:c....






SLC45A2 transcript variant 2 NM_001012509.2:c....






SLC45A2 transcript variant 3 NM_001297417.3:c....






SLC45A2 transcript variant 3 NM_001297417.2:c....






GRCh38.p12 chr 5 alt locus HSCHR5_6_CTG1 NT_187551.1:g.152...






membrane-associated transporter protein isoform a NP_057264.4:p.Leu...






membrane-associated transporter protein isoform b NP_001012527.2:p....







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#.

77 SubSNP, 9 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss23456916 Sep 20, 2004 (123)
2 MGC_GENOME_DIFF ss28510204 Sep 24, 2004 (126)
3 ABI ss44669869 Mar 10, 2006 (126)
4 PERLEGEN ss68931899 May 16, 2007 (127)
5 AFFY ss74816457 Aug 16, 2007 (128)
6 ILLUMINA ss74858559 Dec 06, 2007 (129)
7 HGSV ss78414960 Dec 06, 2007 (129)
8 CORNELL ss86270034 Mar 23, 2008 (129)
9 BCMHGSC_JDW ss93054654 Mar 24, 2008 (129)
10 HUMANGENOME_JCVI ss98610228 Feb 06, 2009 (130)
11 1000GENOMES ss108947755 Jan 23, 2009 (130)
12 ENSEMBL ss143019484 Dec 01, 2009 (131)
13 ENSEMBL ss143988735 Dec 01, 2009 (131)
14 ILLUMINA ss153570135 Dec 01, 2009 (131)
15 ILLUMINA ss159296044 Dec 01, 2009 (131)
16 SEATTLESEQ ss159709227 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss162160738 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss166398089 Jul 04, 2010 (132)
19 ILLUMINA ss172648543 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss206963162 Jul 04, 2010 (132)
21 1000GENOMES ss232898702 Jul 14, 2010 (132)
22 ILLUMINA ss244281104 Jul 04, 2010 (132)
23 BL ss253359461 May 09, 2011 (134)
24 OMIM-CURATED-RECORDS ss275513746 Nov 22, 2010 (133)
25 GMI ss285153617 Apr 25, 2013 (138)
26 PJP ss293564852 May 09, 2011 (134)
27 NHLBI-ESP ss342179194 May 09, 2011 (134)
28 ILLUMINA ss410909706 Sep 17, 2011 (135)
29 PAGE_STUDY ss469414443 May 04, 2012 (137)
30 PAGE_STUDY ss469415108 May 04, 2012 (137)
31 1000GENOMES ss490901540 May 04, 2012 (137)
32 EXOME_CHIP ss491365273 May 04, 2012 (137)
33 ILLUMINA ss832808140 Aug 21, 2014 (142)
34 ILLUMINA ss833398970 Aug 21, 2014 (142)
35 EVA-GONL ss981430573 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1067467357 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1072530248 Aug 21, 2014 (142)
38 1000GENOMES ss1314583040 Aug 21, 2014 (142)
39 HAMMER_LAB ss1397409772 Sep 08, 2015 (146)
40 DDI ss1430303032 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1581086762 Apr 01, 2015 (144)
42 EVA_DECODE ss1590953132 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1612627046 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1655621079 Apr 01, 2015 (144)
45 EVA_EXAC ss1687774625 Apr 01, 2015 (144)
46 EVA_MGP ss1711083763 Apr 01, 2015 (144)
47 WEILL_CORNELL_DGM ss1924692328 Feb 12, 2016 (147)
48 GENOMED ss1970059604 Jul 19, 2016 (147)
49 JJLAB ss2022948859 Sep 14, 2016 (149)
50 ILLUMINA ss2094818058 Dec 20, 2016 (150)
51 USC_VALOUEV ss2151099537 Dec 20, 2016 (150)
52 HUMAN_LONGEVITY ss2272760733 Dec 20, 2016 (150)
53 TOPMED ss2440792581 Dec 20, 2016 (150)
54 ILLUMINA ss2635142577 Nov 08, 2017 (151)
55 GNOMAD ss2734944774 Nov 08, 2017 (151)
56 GNOMAD ss2747368571 Nov 08, 2017 (151)
57 GNOMAD ss2823086945 Nov 08, 2017 (151)
58 AFFY ss2985318709 Nov 08, 2017 (151)
59 AFFY ss2985949465 Nov 08, 2017 (151)
60 SWEGEN ss2996714412 Nov 08, 2017 (151)
61 BIOINF_KMB_FNS_UNIBA ss3025259923 Nov 08, 2017 (151)
62 CSHL ss3346328181 Nov 08, 2017 (151)
63 TOPMED ss3460630384 Nov 08, 2017 (151)
64 TOPMED ss3460630385 Nov 08, 2017 (151)
65 ILLUMINA ss3638547022 Oct 12, 2018 (152)
66 ILLUMINA ss3643493561 Oct 12, 2018 (152)
67 OMUKHERJEE_ADBS ss3646317967 Oct 12, 2018 (152)
68 URBANLAB ss3648028556 Oct 12, 2018 (152)
69 ILLUMINA ss3654091892 Oct 12, 2018 (152)
70 EGCUT_WGS ss3664610907 Jul 13, 2019 (153)
71 EVA_DECODE ss3714441075 Jul 13, 2019 (153)
72 ACPOP ss3732244945 Jul 13, 2019 (153)
73 EVA ss3763276390 Jul 13, 2019 (153)
74 PACBIO ss3785077388 Jul 13, 2019 (153)
75 PACBIO ss3790489121 Jul 13, 2019 (153)
76 PACBIO ss3795365547 Jul 13, 2019 (153)
77 KHV_HUMAN_GENOMES ss3806451660 Jul 13, 2019 (153)
78 1000Genomes NC_000005.9 - 33951693 Oct 12, 2018 (152)
79 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 33951693 Oct 12, 2018 (152)
80 Genetic variation in the Estonian population NC_000005.9 - 33951693 Oct 12, 2018 (152)
81 ExAC NC_000005.9 - 33951693 Oct 12, 2018 (152)
82 gnomAD - Genomes NC_000005.9 - 33951693 Jul 13, 2019 (153)
83 gnomAD - Exomes NC_000005.9 - 33951693 Jul 13, 2019 (153)
84 Northern Sweden NC_000005.9 - 33951693 Jul 13, 2019 (153)
85 TopMed NC_000005.10 - 33951588 Oct 12, 2018 (152)
86 UK 10K study - Twins NC_000005.9 - 33951693 Oct 12, 2018 (152)
87 ClinVar RCV000004763.4 Oct 12, 2018 (152)
88 ClinVar RCV000022392.1 Oct 12, 2018 (152)
89 ClinVar RCV000178963.1 Oct 12, 2018 (152)

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)
rs17855902 Mar 10, 2006 (126)
rs52801453 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss3460630384 NC_000005.10:33951587:C:A NC_000005.10:33951587:C:A (self)
ss78414960, ss93054654, ss108947755, ss162160738, ss166398089, ss206963162, ss253359461, ss285153617, ss293564852, ss410909706, ss1397409772, ss1590953132, ss2635142577, ss3643493561 NC_000005.8:33987449:C:G NC_000005.10:33951587:C:G (self)
26165210, 14554487, 10349155, 7762376, 71439371, 4061240, 5529810, 14554487, ss232898702, ss342179194, ss490901540, ss491365273, ss832808140, ss833398970, ss981430573, ss1067467357, ss1072530248, ss1314583040, ss1430303032, ss1581086762, ss1612627046, ss1655621079, ss1687774625, ss1711083763, ss1924692328, ss1970059604, ss2022948859, ss2094818058, ss2151099537, ss2440792581, ss2734944774, ss2747368571, ss2823086945, ss2985318709, ss2985949465, ss2996714412, ss3346328181, ss3638547022, ss3646317967, ss3654091892, ss3664610907, ss3732244945, ss3763276390, ss3785077388, ss3790489121, ss3795365547 NC_000005.9:33951692:C:G NC_000005.10:33951587:C:G (self)
RCV000178963.1, 308120692, ss275513746, ss2272760733, ss3025259923, ss3460630385, ss3648028556, ss3714441075, ss3806451660 NC_000005.10:33951587:C:G NC_000005.10:33951587:C:G (self)
ss23456916, ss28510204, ss44669869, ss68931899, ss74816457, ss74858559, ss86270034, ss98610228, ss143019484, ss143988735, ss153570135, ss159296044, ss159709227, ss172648543, ss244281104, ss469414443, ss469415108 NT_006576.16:33941692:C:G NC_000005.10:33951587:C:G (self)

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

69 citations for rs16891982
PMID Title Author Year Journal
15714523 Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Graf J et al. 2005 Human mutation
17044855 Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. Yuasa I et al. 2006 Annals of human genetics
17999355 A genomewide association study of skin pigmentation in a South Asian population. Stokowski RP et al. 2007 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
18563784 SLC45A2: a novel malignant melanoma-associated gene. Fernandez LP et al. 2008 Human mutation
18683857 Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. Guedj M et al. 2008 Human mutation
18806926 Association of the SLC45A2 gene with physiological human hair colour variation. Branicki W et al. 2008 Journal of human genetics
19340012 Genome-wide association study of tanning phenotype in a population of European ancestry. Nan H et al. 2009 The Journal of investigative dermatology
19384953 Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Nan H et al. 2009 International journal of cancer
19440451 Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations. Giardina E et al. 2008 Current genomics
19578363 New common variants affecting susceptibility to basal cell carcinoma. Stacey SN et al. 2009 Nature genetics
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
20042077 Genetic determinants of hair and eye colours in the Scottish and Danish populations. Mengel-From J et al. 2009 BMC genetics
20158590 Predicting phenotype from genotype: normal pigmentation. Valenzuela RK et al. 2010 Journal of forensic sciences
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
20585627 Web-based, participant-driven studies yield novel genetic associations for common traits. Eriksson N et al. 2010 PLoS genetics
20806075 Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. Renugadevi K et al. 2010 Molecular vision
20850402 Genetic analysis of the SNPforID 34-plex ancestry informative SNP panel in Tunisian and Libyan populations. Khodjet-el-Khil H et al. 2011 Forensic science international. Genetics
20886636 Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA. Lao O et al. 2010 Human mutation
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
21559390 A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene. Ibarrola-Villava M et al. 2011 PloS one
21589938 Targeted assembly of short sequence reads. Warren RL et al. 2011 PloS one
21674838 Genetic examination of the putative skull of Jan Kochanowski reveals its female sex. Kupiec T et al. 2011 Croatian medical journal
21926416 Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Amos CI et al. 2011 Human molecular genetics
21976407 Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking-related lung cancer. Buch SC et al. 2012 Molecular carcinogenesis
21983787 Genome-wide association study identifies three new melanoma susceptibility loci. Barrett JH et al. 2011 Nature genetics
22629401 Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D. Berry DJ et al. 2012 PloS one
23071798 Functional assessment of human coding mutations affecting skin pigmentation using zebrafish. Tsetskhladze ZR 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
23771755 Improved eye- and skin-color prediction based on 8 SNPs. Hart KL et al. 2013 Croatian medical journal
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
24596592 Ethnic characterization of a population of children exposed to high doses of arsenic via drinking water and a possible correlation with metabolic processes. Bobillo C et al. 2014 International journal of molecular epidemiology and genetics
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
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
24926819 Increased risk of developing cutaneous malignant melanoma is associated with variation in pigmentation genes and VDR, and may involve epistatic effects. Kosiniak-Kamysz A et al. 2014 Melanoma research
25077817 Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions. Barrett JH et al. 2015 International journal of cancer
25093503 The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population. López S et al. 2014 PloS one
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
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
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.)
26924531 Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia. Galinsky KJ et al. 2016 American journal of human genetics
26938746 Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome. Johansen P et al. 2016 PloS one
26988143 Human adaptation and population differentiation in the light of ancient genomes. Key FM et al. 2016 Nature communications
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
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
27424798 Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. Chahal HS et al. 2016 Nature communications
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
27468418 Importance of nonsynonymous OCA2 variants in human eye color prediction. Andersen JD et al. 2016 Molecular genetics & genomic medicine
27502179 The genetics of an early Neolithic pastoralist from the Zagros, Iran. Gallego-Llorente M et al. 2016 Scientific reports
27716216 The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum. Gerhard GS et al. 2016 BMC medical genomics
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
28300201 Identification of a novel locus associated with skin colour in African-admixed populations. Hernandez-Pacheco N et al. 2017 Scientific reports
28457509 Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil. Fracasso NCA et al. 2017 Legal medicine (Tokyo, Japan)
29518100 Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels. Nair-Shalliker V et al. 2018 PloS one
29974532 Genetic variants associated with skin photosensitivity in a southern European population from Spain. Hernando B et al. 2018 Photodermatology, photoimmunology & photomedicine

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.post104+4a6ee9c