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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.

rs1805007

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr16:89919709 (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 / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.04441 (10631/239386, GnomAD)
T=0.04701 (5903/125568, TOPMED)
T=0.04488 (5382/119912, ExAC) (+ 5 more)
T=0.0490 (1516/30920, GnomAD)
T=0.019 (93/5008, 1000G)
T=0.058 (258/4480, Estonian)
T=0.090 (347/3854, ALSPAC)
T=0.100 (369/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MC1R : Missense Variant
Publications
51 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 16 NC_000016.10:g.89919709C>A
GRCh38.p12 chr 16 NC_000016.10:g.89919709C>G
GRCh38.p12 chr 16 NC_000016.10:g.89919709C>T
GRCh37.p13 chr 16 NC_000016.9:g.89986117C>A
GRCh37.p13 chr 16 NC_000016.9:g.89986117C>G
GRCh37.p13 chr 16 NC_000016.9:g.89986117C>T
TUBB3 RefSeqGene NG_027810.1:g.2701C>A
TUBB3 RefSeqGene NG_027810.1:g.2701C>G
TUBB3 RefSeqGene NG_027810.1:g.2701C>T
MC1R RefSeqGene NG_012026.1:g.6831C>A
MC1R RefSeqGene NG_012026.1:g.6831C>G
MC1R RefSeqGene NG_012026.1:g.6831C>T
Gene: MC1R, melanocortin 1 receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MC1R transcript NM_002386.3:c.451C>A R [CGC] > S [AGC] Coding Sequence Variant
melanocyte-stimulating hormone receptor NP_002377.4:p.Arg151Ser R (Arg) > S (Ser) Missense Variant
MC1R transcript NM_002386.3:c.451C>G R [CGC] > G [GGC] Coding Sequence Variant
melanocyte-stimulating hormone receptor NP_002377.4:p.Arg151Gly R (Arg) > G (Gly) Missense Variant
MC1R transcript NM_002386.3:c.451C>T R [CGC] > C [TGC] Coding Sequence Variant
melanocyte-stimulating hormone receptor NP_002377.4:p.Arg151Cys R (Arg) > C (Cys) Missense 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: 29351 )
ClinVar Accession Disease Names Clinical Significance
RCV000015385.30 Skin/hair/eye pigmentation 2, red hair/fair skin Association
RCV000015386.25 Increased analgesia from kappa-opioid receptor agonist, female-specific Affects
RCV000015387.30 OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF Risk-Factor
RCV000242808.1 not specified Benign
RCV000255991.2 not provided Pathogenic
RCV000395364.1 Malignant Melanoma Susceptibility Likely-Benign
RCV000472249.2 Cutaneous malignant melanoma 5 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 239386 C=0.95559 T=0.04441
gnomAD - Exomes European Sub 127422 C=0.92827 T=0.07173
gnomAD - Exomes Asian Sub 47976 C=0.9975 T=0.0025
gnomAD - Exomes American Sub 33548 C=0.9905 T=0.0095
gnomAD - Exomes African Sub 15224 C=0.9871 T=0.0129
gnomAD - Exomes Ashkenazi Jewish Sub 9808 C=0.934 T=0.066
gnomAD - Exomes Other Sub 5408 C=0.962 T=0.038
TopMed Global Study-wide 125568 C=0.95299 T=0.04701
ExAC Global Study-wide 119912 C=0.95512 T=0.04488
ExAC Europe Sub 72554 C=0.9303 T=0.0697
ExAC Asian Sub 25034 C=0.9969 T=0.0031
ExAC American Sub 11522 C=0.9921 T=0.0079
ExAC African Sub 9914 C=0.986 T=0.014
ExAC Other Sub 888 C=0.98 T=0.02
gnomAD - Genomes Global Study-wide 30920 C=0.9510 T=0.0490
gnomAD - Genomes European Sub 18474 C=0.9289 T=0.0711
gnomAD - Genomes African Sub 8706 C=0.985 T=0.015
gnomAD - Genomes East Asian Sub 1622 C=0.999 T=0.001
gnomAD - Genomes Other Sub 978 C=0.95 T=0.05
gnomAD - Genomes American Sub 838 C=0.98 T=0.02
gnomAD - Genomes Ashkenazi Jewish Sub 302 C=0.96 T=0.04
1000Genomes Global Study-wide 5008 C=0.981 T=0.019
1000Genomes African Sub 1322 C=0.997 T=0.003
1000Genomes East Asian Sub 1008 C=0.999 T=0.001
1000Genomes Europe Sub 1006 C=0.928 T=0.072
1000Genomes South Asian Sub 978 C=0.99 T=0.01
1000Genomes American Sub 694 C=0.98 T=0.02
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.942 T=0.058
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.910 T=0.090
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.900 T=0.100
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 G T Note
GRCh38.p12 chr 16 NC_000016.10:...

NC_000016.10:g.89919709C=

NC_000016.10:...

NC_000016.10:g.89919709C>A

NC_000016.10:...

NC_000016.10:g.89919709C>G

NC_000016.10:...

NC_000016.10:g.89919709C>T

GRCh37.p13 chr 16 NC_000016.9:g...

NC_000016.9:g.89986117C=

NC_000016.9:g...

NC_000016.9:g.89986117C>A

NC_000016.9:g...

NC_000016.9:g.89986117C>G

NC_000016.9:g...

NC_000016.9:g.89986117C>T

TUBB3 RefSeqGene NG_027810.1:g...

NG_027810.1:g.2701C=

NG_027810.1:g...

NG_027810.1:g.2701C>A

NG_027810.1:g...

NG_027810.1:g.2701C>G

NG_027810.1:g...

NG_027810.1:g.2701C>T

MC1R RefSeqGene NG_012026.1:g...

NG_012026.1:g.6831C=

NG_012026.1:g...

NG_012026.1:g.6831C>A

NG_012026.1:g...

NG_012026.1:g.6831C>G

NG_012026.1:g...

NG_012026.1:g.6831C>T

MC1R transcript NM_002386.3:c...

NM_002386.3:c.451C=

NM_002386.3:c...

NM_002386.3:c.451C>A

NM_002386.3:c...

NM_002386.3:c.451C>G

NM_002386.3:c...

NM_002386.3:c.451C>T

melanocyte-stimulating hormone receptor NP_002377.4:p...

NP_002377.4:p.Arg151=

NP_002377.4:p...

NP_002377.4:p.Arg151Ser

NP_002377.4:p...

NP_002377.4:p.Arg151Gly

NP_002377.4:p...

NP_002377.4:p.Arg151Cys

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#.

77 SubSNP, 8 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2425920 Nov 14, 2000 (89)
2 PGA-UW-FHCRC ss4472756 Jul 03, 2002 (110)
3 PERLEGEN ss24695277 Sep 20, 2004 (123)
4 ABI ss40730574 Mar 13, 2006 (126)
5 SNP500CANCER ss48295620 Mar 13, 2006 (126)
6 APPLERA_GI ss48410325 Mar 13, 2006 (126)
7 PERLEGEN ss69355432 May 17, 2007 (127)
8 ILLUMINA ss74872101 Dec 07, 2007 (129)
9 AFFY ss76592246 Dec 08, 2007 (130)
10 HUMANGENOME_JCVI ss96709093 Feb 04, 2009 (130)
11 KRIBB_YJKIM ss104853767 Feb 04, 2009 (130)
12 ILLUMINA ss120037034 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss168672682 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss171740728 Jul 04, 2010 (132)
15 ILLUMINA ss172926359 Jul 04, 2010 (132)
16 1000GENOMES ss237150929 Jul 15, 2010 (132)
17 OMICIA ss244239409 May 27, 2010 (132)
18 ILLUMINA ss244267385 Jul 04, 2010 (132)
19 BL ss255886932 May 09, 2011 (134)
20 OMIM-CURATED-RECORDS ss275515488 Nov 24, 2010 (133)
21 ILLUMINA ss410916088 Sep 17, 2011 (135)
22 ILLUMINA ss483589379 May 04, 2012 (137)
23 ILLUMINA ss484262558 May 04, 2012 (137)
24 EXOME_CHIP ss491513800 May 04, 2012 (137)
25 CLINSEQ_SNP ss491725590 May 04, 2012 (137)
26 ILLUMINA ss536447756 Sep 08, 2015 (146)
27 NHLBI-ESP ss713340312 Apr 25, 2013 (138)
28 ILLUMINA ss779530072 Sep 08, 2015 (146)
29 ILLUMINA ss780722556 Sep 08, 2015 (146)
30 ILLUMINA ss782577305 Sep 08, 2015 (146)
31 ILLUMINA ss783398384 Sep 08, 2015 (146)
32 ILLUMINA ss835000626 Sep 08, 2015 (146)
33 EVA-GONL ss992830730 Aug 21, 2014 (142)
34 1000GENOMES ss1357561449 Aug 21, 2014 (142)
35 EVA_FINRISK ss1584102412 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1635117240 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1678111273 Apr 01, 2015 (144)
38 EVA_EXAC ss1692487485 Apr 01, 2015 (144)
39 EVA_DECODE ss1696872309 Apr 01, 2015 (144)
40 EVA_MGP ss1711441355 Apr 01, 2015 (144)
41 ILLUMINA ss1752213139 Sep 08, 2015 (146)
42 ILLUMINA ss1917911991 Feb 12, 2016 (147)
43 WEILL_CORNELL_DGM ss1936272973 Feb 12, 2016 (147)
44 ILLUMINA ss1946424252 Feb 12, 2016 (147)
45 ILLUMINA ss1959711640 Feb 12, 2016 (147)
46 JJLAB ss2028926297 Sep 14, 2016 (149)
47 ILLUMINA ss2095070734 Dec 20, 2016 (150)
48 ILLUMINA ss2095070735 Dec 20, 2016 (150)
49 ILLUMINA ss2095070736 Dec 20, 2016 (150)
50 USC_VALOUEV ss2157367877 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2214824187 Dec 20, 2016 (150)
52 TOPMED ss2379650258 Dec 20, 2016 (150)
53 ILLUMINA ss2633363340 Nov 08, 2017 (151)
54 ILLUMINA ss2635067380 Nov 08, 2017 (151)
55 GNOMAD ss2742271353 Nov 08, 2017 (151)
56 GNOMAD ss2749635798 Nov 08, 2017 (151)
57 GNOMAD ss2946702231 Nov 08, 2017 (151)
58 AFFY ss2985080453 Nov 08, 2017 (151)
59 AFFY ss2985718376 Nov 08, 2017 (151)
60 SWEGEN ss3015041393 Nov 08, 2017 (151)
61 ILLUMINA ss3021742095 Nov 08, 2017 (151)
62 TOPMED ss3255026635 Nov 08, 2017 (151)
63 CSHL ss3351606489 Nov 08, 2017 (151)
64 ILLUMINA ss3627602949 Oct 12, 2018 (152)
65 ILLUMINA ss3627602950 Oct 12, 2018 (152)
66 ILLUMINA ss3631346734 Oct 12, 2018 (152)
67 ILLUMINA ss3634658689 Oct 12, 2018 (152)
68 ILLUMINA ss3638143982 Oct 12, 2018 (152)
69 ILLUMINA ss3640366009 Oct 12, 2018 (152)
70 ILLUMINA ss3643123676 Oct 12, 2018 (152)
71 ILLUMINA ss3644677333 Oct 12, 2018 (152)
72 BIOINF_KMB_FNS_UNIBA ss3645435732 Oct 12, 2018 (152)
73 URBANLAB ss3650579997 Oct 12, 2018 (152)
74 ILLUMINA ss3652154494 Oct 12, 2018 (152)
75 ILLUMINA ss3652154495 Oct 12, 2018 (152)
76 ILLUMINA ss3652154496 Oct 12, 2018 (152)
77 ILLUMINA ss3653852550 Oct 12, 2018 (152)
78 1000Genomes NC_000016.9 - 89986117 Oct 12, 2018 (152)
79 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 89986117 Oct 12, 2018 (152)
80 Genetic variation in the Estonian population NC_000016.9 - 89986117 Oct 12, 2018 (152)
81 ExAC NC_000016.9 - 89986117 Oct 12, 2018 (152)
82 gnomAD - Genomes NC_000016.9 - 89986117 Oct 12, 2018 (152)
83 gnomAD - Exomes NC_000016.9 - 89986117 Oct 12, 2018 (152)
84 TopMed NC_000016.10 - 89919709 Oct 12, 2018 (152)
85 UK 10K study - Twins NC_000016.9 - 89986117 Oct 12, 2018 (152)
86 ClinVar RCV000015385.30 Oct 12, 2018 (152)
87 ClinVar RCV000015386.25 Oct 12, 2018 (152)
88 ClinVar RCV000015387.30 Oct 12, 2018 (152)
89 ClinVar RCV000242808.1 Oct 12, 2018 (152)
90 ClinVar RCV000255991.2 Oct 12, 2018 (152)
91 ClinVar RCV000395364.1 Oct 12, 2018 (152)
92 ClinVar RCV000472249.2 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)
rs3212380 Dec 16, 2002 (110)
rs17719568 Oct 08, 2004 (123)
rs56569770 May 24, 2008 (130)
rs386505388 Aug 06, 2014 (136)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss168672682, ss171740728, ss255886932, ss483589379, ss491725590, ss1696872309, ss2635067380, ss3643123676 NC_000016.8:88513617:C= NC_000016.10:89919708:C= (self)
70762812, 39253509, 27757442, 2907941, 80403758, 9114127, 39253509, ss237150929, ss484262558, ss491513800, ss536447756, ss713340312, ss779530072, ss780722556, ss782577305, ss783398384, ss835000626, ss992830730, ss1357561449, ss1584102412, ss1635117240, ss1678111273, ss1692487485, ss1711441355, ss1752213139, ss1917911991, ss1936272973, ss1946424252, ss1959711640, ss2028926297, ss2095070734, ss2095070735, ss2095070736, ss2157367877, ss2379650258, ss2633363340, ss2742271353, ss2749635798, ss2946702231, ss2985080453, ss2985718376, ss3015041393, ss3021742095, ss3351606489, ss3627602949, ss3627602950, ss3631346734, ss3634658689, ss3638143982, ss3640366009, ss3644677333, ss3652154494, ss3652154495, ss3652154496, ss3653852550 NC_000016.9:89986116:C= NC_000016.10:89919708:C= (self)
151103879, ss244239409, ss275515488, ss2214824187, ss3255026635, ss3645435732, ss3650579997 NC_000016.10:89919708:C= NC_000016.10:89919708:C= (self)
ss2425920, ss4472756, ss24695277, ss40730574, ss48295620, ss48410325, ss69355432, ss74872101, ss76592246, ss96709093, ss104853767, ss120037034, ss172926359, ss244267385, ss410916088 NT_010542.15:1546733:C= NC_000016.10:89919708:C= (self)
ss2095070736 NC_000016.9:89986116:C>A NC_000016.10:89919708:C>A (self)
ss2095070734, ss3652154495 NC_000016.9:89986116:C>G NC_000016.10:89919708:C>G (self)
ss48295620, ss104853767 NT_010542.15:1546733:C>G NC_000016.10:89919708:C>G (self)
ss168672682, ss171740728, ss255886932, ss483589379, ss491725590, ss1696872309, ss2635067380, ss3643123676 NC_000016.8:88513617:C>T NC_000016.10:89919708:C>T (self)
70762812, 39253509, 27757442, 2907941, 80403758, 9114127, 39253509, ss237150929, ss484262558, ss491513800, ss536447756, ss713340312, ss779530072, ss780722556, ss782577305, ss783398384, ss835000626, ss992830730, ss1357561449, ss1584102412, ss1635117240, ss1678111273, ss1692487485, ss1711441355, ss1752213139, ss1917911991, ss1936272973, ss1946424252, ss1959711640, ss2028926297, ss2095070735, ss2157367877, ss2379650258, ss2633363340, ss2742271353, ss2749635798, ss2946702231, ss2985080453, ss2985718376, ss3015041393, ss3021742095, ss3351606489, ss3627602949, ss3627602950, ss3631346734, ss3634658689, ss3638143982, ss3640366009, ss3644677333, ss3652154494, ss3652154496, ss3653852550 NC_000016.9:89986116:C>T NC_000016.10:89919708:C>T (self)
RCV000015385.30, RCV000015386.25, RCV000015387.30, RCV000242808.1, RCV000255991.2, RCV000395364.1, RCV000472249.2, 151103879, ss244239409, ss275515488, ss2214824187, ss3255026635, ss3645435732, ss3650579997 NC_000016.10:89919708:C>T NC_000016.10:89919708:C>T (self)
ss2425920, ss4472756, ss24695277, ss40730574, ss48295620, ss48410325, ss69355432, ss74872101, ss76592246, ss96709093, ss104853767, ss120037034, ss172926359, ss244267385, ss410916088 NT_010542.15:1546733:C>T NC_000016.10:89919708: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.

51 citations for rs1805007
PMID Title Author Year Journal
9571181 Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor. Frändberg PA et al. 1998 Biochemical and biophysical research communications
12876664 MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). King RA et al. 2003 American journal of human genetics
15994880 Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans. Mogil JS et al. 2005 Journal of medical genetics
16463023 Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians. Nakayama K et al. 2006 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
16601669 Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population. Stratigos AJ et al. 2006 The Journal of investigative dermatology
17616515 Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Beaumont KA et al. 2007 Human molecular genetics
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
19194882 Genetic determinants of hair color and Parkinson's disease risk. Gao X et al. 2009 Annals of neurology
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
19812545 Origins and functional impact of copy number variation in the human genome. Conrad DF et al. 2010 Nature
19884608 Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations. Xie P et al. 2009 Archives of general psychiatry
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
20393453 Interaction of FKBP5 with childhood adversity on risk for post-traumatic stress disorder. Xie P et al. 2010 Neuropsychopharmacology
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
20670983 The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation. Strange RC et al. 2010 Multiple sclerosis (Houndmills, Basingstoke, England)
20691402 Whole-genome genetic diversity in a sample of Australians with deep Aboriginal ancestry. McEvoy BP et al. 2010 American journal of human genetics
21197618 Model-based prediction of human hair color using DNA variants. Branicki W et al. 2011 Human genetics
21445957 Association of CHRNA4 polymorphisms with smoking behavior in two populations. Han S et al. 2011 American journal of medical genetics. Part B, Neuropsychiatric genetics
21700618 Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Nan H et al. 2011 Human molecular genetics
21829225 People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population. Winney B et al. 2012 European journal of human genetics
21926416 Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Amos CI et al. 2011 Human molecular genetics
22140526 Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example. Liu F et al. 2011 PloS one
22629401 Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D. Berry DJ et al. 2012 PloS one
23393597 Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study. Stefanaki I et al. 2013 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
24086514 Association of polymorphisms in pharmacogenetic candidate genes (OPRD1, GAL, ABCB1, OPRM1) with opioid dependence in European population: a case-control study. Beer B et al. 2013 PloS one
24274136 Biobanking across the phenome - at the center of chronic disease research. Imboden M et al. 2013 BMC public health
24439955 Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Dong J et al. 2014 Neurobiology of aging
24473444 The α-endomannosidase gene (MANEA) is associated with panic disorder and social anxiety disorder. Jensen KP et al. 2014 Translational psychiatry
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
25159867 Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome. Yasar B et al. 2015 European journal of human genetics
25631192 The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. Tell-Marti G et al. 2015 Annals of neurology
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
25945350 Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma. Pośpiech E et al. 2015 BioMed research international
26547235 Crowdsourced direct-to-consumer genomic analysis of a family quartet. Corpas M et al. 2015 BMC genomics
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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.post58+e54ea20