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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.

rs1800407

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr15:27985172 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.04691 (11577/246792, GnomAD_exome)
T=0.04833 (6069/125568, TOPMED)
T=0.04471 (5295/118442, ExAC) (+ 7 more)
T=0.0283 (2227/78702, PAGE_STUDY)
T=0.0440 (1381/31394, GnomAD)
T=0.025 (127/5008, 1000G)
T=0.045 (200/4480, Estonian)
T=0.091 (349/3854, ALSPAC)
T=0.086 (320/3708, TWINSUK)
T=0.05 (30/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
OCA2 : Missense Variant
Publications
32 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.27985172C>T
GRCh37.p13 chr 15 NC_000015.9:g.28230318C>T
OCA2 RefSeqGene NG_009846.1:g.119141G>A
chr 15 fix patch HG2139_PATCH NW_011332701.1:g.119439C>T
GRCh38.p12 chr 15 alt locus HSCHR15_4_CTG8 NT_187660.1:g.119439C>T
Gene: OCA2, OCA2 melanosomal transmembrane protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
OCA2 transcript variant 1 NM_000275.3:c.1256G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform 1 NP_000266.2:p.Arg419Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant 2 NM_001300984.2:c.1184G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform 2 NP_001287913.1:p.Arg395Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X1 XM_017022255.1:c.1280G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X1 XP_016877744.1:p.Arg427Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X2 XM_011521640.2:c.1256G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X2 XP_011519942.1:p.Arg419Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X3 XM_017022256.1:c.1280G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X3 XP_016877745.1:p.Arg427Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X4 XM_017022257.1:c.1208G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X4 XP_016877746.1:p.Arg403Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X5 XM_017022258.1:c.1280G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X5 XP_016877747.1:p.Arg427Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X6 XM_017022259.1:c.1208G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X6 XP_016877748.1:p.Arg403Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X7 XM_017022260.1:c.1142G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X7 XP_016877749.1:p.Arg381Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X8 XM_017022261.1:c.1085G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X8 XP_016877750.1:p.Arg362Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X9 XM_017022262.1:c.1280G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X9 XP_016877751.1:p.Arg427Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X10 XM_017022263.1:c.1280G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X10 XP_016877752.1:p.Arg427Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X11 XM_017022264.1:c.1280G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X11 XP_016877753.1:p.Arg427Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X12 XM_017022265.1:c.1280G>A R [CGG] > Q [CAG] Coding Sequence Variant
P protein isoform X12 XP_016877754.1:p.Arg427Gln R (Arg) > Q (Gln) Missense Variant
OCA2 transcript variant X13 XR_001751294.1:n.1369G>A N/A Non Coding 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: T (allele ID: 16002 )
ClinVar Accession Disease Names Clinical Significance
RCV000001014.6 Skin/hair/eye pigmentation, variation in, 1 Affects
RCV000252408.2 not specified Benign
RCV000397427.1 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 246792 C=0.95309 T=0.04691
gnomAD - Exomes European Sub 131610 C=0.93855 T=0.06145
gnomAD - Exomes Asian Sub 48834 C=0.9800 T=0.0200
gnomAD - Exomes American Sub 34460 C=0.9564 T=0.0436
gnomAD - Exomes African Sub 15938 C=0.9886 T=0.0114
gnomAD - Exomes Ashkenazi Jewish Sub 9924 C=0.951 T=0.049
gnomAD - Exomes Other Sub 6026 C=0.944 T=0.056
TopMed Global Study-wide 125568 C=0.95167 T=0.04833
ExAC Global Study-wide 118442 C=0.95529 T=0.04471
ExAC Europe Sub 71508 C=0.9414 T=0.0586
ExAC Asian Sub 24820 C=0.9786 T=0.0214
ExAC American Sub 11336 C=0.9640 T=0.0360
ExAC African Sub 9916 C=0.988 T=0.012
ExAC Other Sub 862 C=0.95 T=0.05
The PAGE Study Global Study-wide 78702 C=0.9717 T=0.0283
The PAGE Study AfricanAmerican Sub 32516 C=0.9844 T=0.0156
The PAGE Study Mexican Sub 10810 C=0.9572 T=0.0428
The PAGE Study Asian Sub 8318 C=0.999 T=0.001
The PAGE Study PuertoRican Sub 7918 C=0.952 T=0.048
The PAGE Study NativeHawaiian Sub 4534 C=0.980 T=0.020
The PAGE Study Cuban Sub 4230 C=0.928 T=0.072
The PAGE Study Dominican Sub 3828 C=0.957 T=0.043
The PAGE Study CentralAmerican Sub 2450 C=0.953 T=0.047
The PAGE Study SouthAmerican Sub 1982 C=0.951 T=0.049
The PAGE Study NativeAmerican Sub 1260 C=0.942 T=0.058
The PAGE Study SouthAsian Sub 856 C=0.97 T=0.03
gnomAD - Genomes Global Study-wide 31394 C=0.9560 T=0.0440
gnomAD - Genomes European Sub 18896 C=0.9387 T=0.0613
gnomAD - Genomes African Sub 8716 C=0.985 T=0.015
gnomAD - Genomes East Asian Sub 1558 C=0.999 T=0.001
gnomAD - Genomes Other Sub 1086 C=0.956 T=0.044
gnomAD - Genomes American Sub 848 C=0.96 T=0.04
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.97 T=0.03
1000Genomes Global Study-wide 5008 C=0.975 T=0.025
1000Genomes African Sub 1322 C=0.998 T=0.002
1000Genomes East Asian Sub 1008 C=0.999 T=0.001
1000Genomes Europe Sub 1006 C=0.924 T=0.076
1000Genomes South Asian Sub 978 C=0.97 T=0.03
1000Genomes American Sub 694 C=0.97 T=0.03
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.955 T=0.045
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.909 T=0.091
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.914 T=0.086
Northern Sweden ACPOP Study-wide 600 C=0.95 T=0.05
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= T Note
GRCh38.p12 chr 15 NC_000015.10:g.27985172= NC_000015.10:g.27985172C>T
GRCh37.p13 chr 15 NC_000015.9:g.28230318= NC_000015.9:g.28230318C>T
OCA2 RefSeqGene NG_009846.1:g.119141= NG_009846.1:g.119141G>A
OCA2 transcript variant 1 NM_000275.2:c.1256= NM_000275.2:c.1256G>A
OCA2 transcript variant 1 NM_000275.3:c.1256= NM_000275.3:c.1256G>A
OCA2 transcript variant 2 NM_001300984.1:c.1184= NM_001300984.1:c.1184G>A
OCA2 transcript variant 2 NM_001300984.2:c.1184= NM_001300984.2:c.1184G>A
chr 15 fix patch HG2139_PATCH NW_011332701.1:g.119439= NW_011332701.1:g.119439C>T
GRCh38.p12 chr 15 alt locus HSCHR15_4_CTG8 NT_187660.1:g.119439= NT_187660.1:g.119439C>T
OCA2 transcript variant X2 XM_011521640.2:c.1256= XM_011521640.2:c.1256G>A
OCA2 transcript variant X8 XM_017022261.1:c.1085= XM_017022261.1:c.1085G>A
OCA2 transcript variant X3 XM_017022256.1:c.1280= XM_017022256.1:c.1280G>A
OCA2 transcript variant X1 XM_017022255.1:c.1280= XM_017022255.1:c.1280G>A
OCA2 transcript variant X4 XM_017022257.1:c.1208= XM_017022257.1:c.1208G>A
OCA2 transcript variant X6 XM_017022259.1:c.1208= XM_017022259.1:c.1208G>A
OCA2 transcript variant X7 XM_017022260.1:c.1142= XM_017022260.1:c.1142G>A
OCA2 transcript variant X9 XM_017022262.1:c.1280= XM_017022262.1:c.1280G>A
OCA2 transcript variant X12 XM_017022265.1:c.1280= XM_017022265.1:c.1280G>A
OCA2 transcript variant X5 XM_017022258.1:c.1280= XM_017022258.1:c.1280G>A
OCA2 transcript variant X11 XM_017022264.1:c.1280= XM_017022264.1:c.1280G>A
OCA2 transcript variant X13 XR_001751294.1:n.1369= XR_001751294.1:n.1369G>A
OCA2 transcript variant X10 XM_017022263.1:c.1280= XM_017022263.1:c.1280G>A
P protein isoform 1 NP_000266.2:p.Arg419= NP_000266.2:p.Arg419Gln
P protein isoform 2 NP_001287913.1:p.Arg395= NP_001287913.1:p.Arg395Gln
P protein isoform X2 XP_011519942.1:p.Arg419= XP_011519942.1:p.Arg419Gln
P protein isoform X8 XP_016877750.1:p.Arg362= XP_016877750.1:p.Arg362Gln
P protein isoform X3 XP_016877745.1:p.Arg427= XP_016877745.1:p.Arg427Gln
P protein isoform X1 XP_016877744.1:p.Arg427= XP_016877744.1:p.Arg427Gln
P protein isoform X4 XP_016877746.1:p.Arg403= XP_016877746.1:p.Arg403Gln
P protein isoform X6 XP_016877748.1:p.Arg403= XP_016877748.1:p.Arg403Gln
P protein isoform X7 XP_016877749.1:p.Arg381= XP_016877749.1:p.Arg381Gln
P protein isoform X9 XP_016877751.1:p.Arg427= XP_016877751.1:p.Arg427Gln
P protein isoform X12 XP_016877754.1:p.Arg427= XP_016877754.1:p.Arg427Gln
P protein isoform X5 XP_016877747.1:p.Arg427= XP_016877747.1:p.Arg427Gln
P protein isoform X11 XP_016877753.1:p.Arg427= XP_016877753.1:p.Arg427Gln
P protein isoform X10 XP_016877752.1:p.Arg427= XP_016877752.1:p.Arg427Gln
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#.

91 SubSNP, 10 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2420492 Nov 14, 2000 (89)
2 SNP500CANCER ss48296094 Mar 13, 2006 (126)
3 APPLERA_GI ss48429571 Mar 13, 2006 (126)
4 PERLEGEN ss69171462 May 17, 2007 (127)
5 AFFY ss74814245 Aug 16, 2007 (128)
6 ILLUMINA ss74905641 Dec 06, 2007 (129)
7 KRIBB_YJKIM ss119403922 Dec 01, 2009 (131)
8 ILLUMINA ss160462820 Dec 01, 2009 (131)
9 ILLUMINA ss172924695 Jul 04, 2010 (132)
10 BCM-HGSC-SUB ss207291824 Jul 04, 2010 (132)
11 1000GENOMES ss236722444 Jul 15, 2010 (132)
12 OMIM-CURATED-RECORDS ss275517646 Dec 03, 2010 (133)
13 NHLBI-ESP ss342398390 May 09, 2011 (134)
14 ILLUMINA ss480300415 May 04, 2012 (137)
15 ILLUMINA ss480311518 May 04, 2012 (137)
16 ILLUMINA ss481067070 Sep 08, 2015 (146)
17 ILLUMINA ss484948020 May 04, 2012 (137)
18 1000GENOMES ss491078376 May 04, 2012 (137)
19 EXOME_CHIP ss491491333 May 04, 2012 (137)
20 CLINSEQ_SNP ss491696432 May 04, 2012 (137)
21 ILLUMINA ss536287425 Sep 08, 2015 (146)
22 ILLUMINA ss536992291 Sep 08, 2015 (146)
23 ILLUMINA ss778697557 Aug 21, 2014 (142)
24 ILLUMINA ss780706103 Sep 08, 2015 (146)
25 ILLUMINA ss782920318 Aug 21, 2014 (142)
26 ILLUMINA ss783380667 Sep 08, 2015 (146)
27 ILLUMINA ss783883353 Aug 21, 2014 (142)
28 ILLUMINA ss832175442 Apr 01, 2015 (144)
29 ILLUMINA ss834156412 Aug 21, 2014 (142)
30 EVA-GONL ss991623835 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1067550298 Aug 21, 2014 (142)
32 1000GENOMES ss1352819032 Aug 21, 2014 (142)
33 HAMMER_LAB ss1397692491 Sep 08, 2015 (146)
34 EVA_FINRISK ss1584092706 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1632670080 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1675664113 Apr 01, 2015 (144)
37 EVA_EXAC ss1691717126 Apr 01, 2015 (144)
38 EVA_DECODE ss1695635397 Apr 01, 2015 (144)
39 EVA_MGP ss1711390080 Apr 01, 2015 (144)
40 EVA_SVP ss1713477598 Apr 01, 2015 (144)
41 ILLUMINA ss1752154412 Sep 08, 2015 (146)
42 ILLUMINA ss1752154413 Sep 08, 2015 (146)
43 ILLUMINA ss1917893684 Feb 12, 2016 (147)
44 WEILL_CORNELL_DGM ss1935020885 Feb 12, 2016 (147)
45 ILLUMINA ss1946388468 Feb 12, 2016 (147)
46 ILLUMINA ss1959597426 Feb 12, 2016 (147)
47 JJLAB ss2028290773 Sep 14, 2016 (149)
48 ILLUMINA ss2095057508 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2205523925 Dec 20, 2016 (150)
50 TOPMED ss2370059223 Dec 20, 2016 (150)
51 ILLUMINA ss2633208648 Nov 08, 2017 (151)
52 ILLUMINA ss2635056513 Nov 08, 2017 (151)
53 GNOMAD ss2741065893 Nov 08, 2017 (151)
54 GNOMAD ss2749249550 Nov 08, 2017 (151)
55 GNOMAD ss2932980570 Nov 08, 2017 (151)
56 AFFY ss2985035039 Nov 08, 2017 (151)
57 SWEGEN ss3013005249 Nov 08, 2017 (151)
58 ILLUMINA ss3021616166 Nov 08, 2017 (151)
59 TOPMED ss3223219403 Nov 08, 2017 (151)
60 CSHL ss3351041754 Nov 08, 2017 (151)
61 ILLUMINA ss3625669071 Oct 12, 2018 (152)
62 ILLUMINA ss3627323239 Oct 12, 2018 (152)
63 ILLUMINA ss3627323240 Oct 12, 2018 (152)
64 ILLUMINA ss3631202974 Oct 12, 2018 (152)
65 ILLUMINA ss3633091625 Oct 12, 2018 (152)
66 ILLUMINA ss3633795976 Oct 12, 2018 (152)
67 ILLUMINA ss3634597925 Oct 12, 2018 (152)
68 ILLUMINA ss3634597926 Oct 12, 2018 (152)
69 ILLUMINA ss3635485048 Oct 12, 2018 (152)
70 ILLUMINA ss3636288172 Oct 12, 2018 (152)
71 ILLUMINA ss3637236279 Oct 12, 2018 (152)
72 ILLUMINA ss3638075871 Oct 12, 2018 (152)
73 ILLUMINA ss3640305252 Oct 12, 2018 (152)
74 ILLUMINA ss3640305253 Oct 12, 2018 (152)
75 ILLUMINA ss3643060582 Oct 12, 2018 (152)
76 ILLUMINA ss3644641591 Oct 12, 2018 (152)
77 BIOINF_KMB_FNS_UNIBA ss3645373296 Oct 12, 2018 (152)
78 ILLUMINA ss3652015501 Oct 12, 2018 (152)
79 ILLUMINA ss3652015502 Oct 12, 2018 (152)
80 ILLUMINA ss3653806756 Oct 12, 2018 (152)
81 EGCUT_WGS ss3680176776 Jul 13, 2019 (153)
82 EVA_DECODE ss3697583511 Jul 13, 2019 (153)
83 ILLUMINA ss3725484681 Jul 13, 2019 (153)
84 ACPOP ss3740786820 Jul 13, 2019 (153)
85 ILLUMINA ss3744417182 Jul 13, 2019 (153)
86 ILLUMINA ss3744898491 Jul 13, 2019 (153)
87 ILLUMINA ss3744898492 Jul 13, 2019 (153)
88 EVA ss3752890714 Jul 13, 2019 (153)
89 PAGE_CC ss3771818414 Jul 13, 2019 (153)
90 ILLUMINA ss3772397207 Jul 13, 2019 (153)
91 ILLUMINA ss3772397208 Jul 13, 2019 (153)
92 1000Genomes NC_000015.9 - 28230318 Oct 12, 2018 (152)
93 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 28230318 Oct 12, 2018 (152)
94 Genetic variation in the Estonian population NC_000015.9 - 28230318 Oct 12, 2018 (152)
95 ExAC NC_000015.9 - 28230318 Oct 12, 2018 (152)
96 gnomAD - Genomes NC_000015.9 - 28230318 Jul 13, 2019 (153)
97 gnomAD - Exomes NC_000015.9 - 28230318 Jul 13, 2019 (153)
98 Northern Sweden NC_000015.9 - 28230318 Jul 13, 2019 (153)
99 The PAGE Study NC_000015.10 - 27985172 Jul 13, 2019 (153)
100 TopMed NC_000015.10 - 27985172 Oct 12, 2018 (152)
101 UK 10K study - Twins NC_000015.9 - 28230318 Oct 12, 2018 (152)
102 ClinVar RCV000001014.6 Oct 12, 2018 (152)
103 ClinVar RCV000252408.2 Oct 12, 2018 (152)
104 ClinVar RCV000397427.1 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)
rs52791072 Sep 21, 2007 (128)
rs386545578 Aug 06, 2014 (136)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss207291824, ss480300415, ss491696432, ss1397692491, ss1695635397, ss1713477598, ss2635056513, ss3643060582 NC_000015.8:25903912:C:T NC_000015.10:27985171:C:T (self)
65866084, 36574040, 25915024, 2081886, 179688789, 10329206, 14071685, 36574040, ss236722444, ss342398390, ss480311518, ss481067070, ss484948020, ss491078376, ss491491333, ss536287425, ss536992291, ss778697557, ss780706103, ss782920318, ss783380667, ss783883353, ss832175442, ss834156412, ss991623835, ss1067550298, ss1352819032, ss1584092706, ss1632670080, ss1675664113, ss1691717126, ss1711390080, ss1752154412, ss1752154413, ss1917893684, ss1935020885, ss1946388468, ss1959597426, ss2028290773, ss2095057508, ss2370059223, ss2633208648, ss2741065893, ss2749249550, ss2932980570, ss2985035039, ss3013005249, ss3021616166, ss3351041754, ss3625669071, ss3627323239, ss3627323240, ss3631202974, ss3633091625, ss3633795976, ss3634597925, ss3634597926, ss3635485048, ss3636288172, ss3637236279, ss3638075871, ss3640305252, ss3640305253, ss3644641591, ss3652015501, ss3652015502, ss3653806756, ss3680176776, ss3740786820, ss3744417182, ss3744898491, ss3744898492, ss3752890714, ss3772397207, ss3772397208 NC_000015.9:28230317:C:T NC_000015.10:27985171:C:T (self)
RCV000001014.6, RCV000252408.2, RCV000397427.1, 1039883, 125910999, ss275517646, ss2205523925, ss3223219403, ss3645373296, ss3697583511, ss3725484681, ss3771818414 NC_000015.10:27985171:C:T NC_000015.10:27985171:C:T (self)
ss2420492, ss48296094, ss48429571, ss69171462, ss74814245, ss74905641, ss119403922, ss160462820, ss172924695 NT_026446.14:4665464:C:T NC_000015.10:27985171:C:T (self)
Help

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

32 citations for rs1800407
PMID Title Author Year Journal
12163334 P gene as an inherited biomarker of human eye color. Rebbeck TR et al. 2002 Cancer epidemiology, biomarkers & prevention
15889046 Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Jannot AS et al. 2005 European journal of human genetics
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
18093281 Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method. Branicki W et al. 2008 Annals of 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
19208107 Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. Branicki W et al. 2009 Annals of human genetics
19320733 Pigmentation-related genes and their implication in malignant melanoma susceptibility. Fernandez LP et al. 2009 Experimental 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
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
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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