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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

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.

rs6058017

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:34269192 (GRCh38.p14) Help

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

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.296494 (78479/264690, TOPMED)
G=0.288597 (40437/140116, GnomAD)
G=0.15099 (13215/87524, GnomAD_exome) (+ 18 more)
G=0.19015 (5485/28846, ALFA)
G=0.13282 (3753/28256, 14KJPN)
G=0.13073 (2191/16760, 8.3KJPN)
G=0.1873 (1601/8546, GO-ESP)
G=0.3348 (2144/6404, 1000G_30x)
G=0.3237 (1621/5008, 1000G)
G=0.1413 (633/4480, Estonian)
G=0.2642 (1049/3970, ExAC)
G=0.1038 (400/3854, ALSPAC)
G=0.1009 (374/3708, TWINSUK)
G=0.1715 (501/2922, KOREAN)
G=0.115 (69/600, NorthernSweden)
G=0.384 (83/216, Qatari)
A=0.325 (63/194, SGDP_PRJ)
G=0.12 (5/40, GENOME_DK)
G=0.00 (0/24, Ancient Sardinia)
A=0.50 (7/14, Siberian)
G=0.50 (7/14, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
AHCY : Intron Variant
ASIP : 3 Prime UTR Variant
Publications
14 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 28846 A=0.80985 G=0.19015
European Sub 21352 A=0.87758 G=0.12242
African Sub 3522 A=0.3847 G=0.6153
African Others Sub 120 A=0.242 G=0.758
African American Sub 3402 A=0.3898 G=0.6102
Asian Sub 166 A=0.717 G=0.283
East Asian Sub 110 A=0.745 G=0.255
Other Asian Sub 56 A=0.66 G=0.34
Latin American 1 Sub 146 A=0.747 G=0.253
Latin American 2 Sub 610 A=0.898 G=0.102
South Asian Sub 98 A=0.81 G=0.19
Other Sub 2952 A=0.8174 G=0.1826


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
TopMed Global Study-wide 264690 A=0.703506 G=0.296494
gnomAD - Genomes Global Study-wide 140116 A=0.711403 G=0.288597
gnomAD - Genomes European Sub 75894 A=0.88501 G=0.11499
gnomAD - Genomes African Sub 41964 A=0.33588 G=0.66412
gnomAD - Genomes American Sub 13654 A=0.85426 G=0.14574
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.8159 G=0.1841
gnomAD - Genomes East Asian Sub 3128 A=0.7753 G=0.2247
gnomAD - Genomes Other Sub 2152 A=0.7509 G=0.2491
gnomAD - Exomes Global Study-wide 87524 A=0.84901 G=0.15099
gnomAD - Exomes European Sub 40650 A=0.88551 G=0.11449
gnomAD - Exomes Asian Sub 20258 A=0.78641 G=0.21359
gnomAD - Exomes American Sub 17218 A=0.91521 G=0.08479
gnomAD - Exomes Ashkenazi Jewish Sub 4080 A=0.8365 G=0.1635
gnomAD - Exomes Other Sub 2730 A=0.8527 G=0.1473
gnomAD - Exomes African Sub 2588 A=0.3412 G=0.6588
Allele Frequency Aggregator Total Global 28846 A=0.80985 G=0.19015
Allele Frequency Aggregator European Sub 21352 A=0.87758 G=0.12242
Allele Frequency Aggregator African Sub 3522 A=0.3847 G=0.6153
Allele Frequency Aggregator Other Sub 2952 A=0.8174 G=0.1826
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.898 G=0.102
Allele Frequency Aggregator Asian Sub 166 A=0.717 G=0.283
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.747 G=0.253
Allele Frequency Aggregator South Asian Sub 98 A=0.81 G=0.19
14KJPN JAPANESE Study-wide 28256 A=0.86718 G=0.13282
8.3KJPN JAPANESE Study-wide 16760 A=0.86927 G=0.13073
GO Exome Sequencing Project Global Study-wide 8546 A=0.8127 G=0.1873
GO Exome Sequencing Project European American Sub 5854 A=0.9146 G=0.0854
GO Exome Sequencing Project African American Sub 2692 A=0.5910 G=0.4090
1000Genomes_30x Global Study-wide 6404 A=0.6652 G=0.3348
1000Genomes_30x African Sub 1786 A=0.2077 G=0.7923
1000Genomes_30x Europe Sub 1266 A=0.8902 G=0.1098
1000Genomes_30x South Asian Sub 1202 A=0.8295 G=0.1705
1000Genomes_30x East Asian Sub 1170 A=0.7897 G=0.2103
1000Genomes_30x American Sub 980 A=0.858 G=0.142
1000Genomes Global Study-wide 5008 A=0.6763 G=0.3237
1000Genomes African Sub 1322 A=0.2088 G=0.7912
1000Genomes East Asian Sub 1008 A=0.7877 G=0.2123
1000Genomes Europe Sub 1006 A=0.8966 G=0.1034
1000Genomes South Asian Sub 978 A=0.833 G=0.167
1000Genomes American Sub 694 A=0.865 G=0.135
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8587 G=0.1413
ExAC Global Study-wide 3970 A=0.7358 G=0.2642
ExAC Asian Sub 2864 A=0.7420 G=0.2580
ExAC Europe Sub 798 A=0.826 G=0.174
ExAC African Sub 214 A=0.294 G=0.706
ExAC Other Sub 48 A=0.79 G=0.21
ExAC American Sub 46 A=0.78 G=0.22
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8962 G=0.1038
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8991 G=0.1009
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.8285 G=0.1715
Northern Sweden ACPOP Study-wide 600 A=0.885 G=0.115
Qatari Global Study-wide 216 A=0.616 G=0.384
SGDP_PRJ Global Study-wide 194 A=0.325 G=0.675
The Danish reference pan genome Danish Study-wide 40 A=0.88 G=0.12
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 24 A=1.00 G=0.00
Siberian Global Study-wide 14 A=0.50 G=0.50
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.p14 chr 20 NC_000020.11:g.34269192A>G
GRCh37.p13 chr 20 NC_000020.10:g.32856998A>G
ASIP RefSeqGene NG_011439.1:g.13828A>G
Gene: ASIP, agouti signaling protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ASIP transcript variant 2 NM_001385218.1:c.*25= N/A 3 Prime UTR Variant
ASIP transcript variant 1 NM_001672.3:c.*25= N/A 3 Prime UTR Variant
ASIP transcript variant X2 XM_011528821.1:c.*25= N/A 3 Prime UTR Variant
ASIP transcript variant X1 XM_011528820.2:c.*25= N/A 3 Prime UTR Variant
Gene: AHCY, adenosylhomocysteinase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
AHCY transcript variant 1 NM_000687.4:c. N/A Genic Downstream Transcript Variant
AHCY transcript variant 2 NM_001161766.2:c. N/A Genic Downstream Transcript Variant
AHCY transcript variant 4 NM_001322084.2:c. N/A Genic Downstream Transcript Variant
AHCY transcript variant 5 NM_001322085.2:c. N/A Genic Downstream Transcript Variant
AHCY transcript variant 3 NM_001322086.2:c. N/A Genic Downstream Transcript Variant
AHCY transcript variant 6 NM_001362750.2:c. N/A Genic Downstream Transcript Variant
AHCY transcript variant X1 XM_047439962.1:c.*7+11835…

XM_047439962.1:c.*7+11835T>C

 		N/A Intron Variant
AHCY transcript variant X3 XM_011528659.2:c. N/A Genic Downstream Transcript Variant
AHCY transcript variant X2 XM_017027709.3:c. N/A Genic Downstream Transcript Variant
Help

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

Allele: G (allele ID: 24347 )
ClinVar Accession Disease Names Clinical Significance
RCV000009892.7 Skin/hair/eye pigmentation, variation in, 9 Association
Help

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

Placement A= G
GRCh38.p14 chr 20 NC_000020.11:g.34269192= NC_000020.11:g.34269192A>G
GRCh37.p13 chr 20 NC_000020.10:g.32856998= NC_000020.10:g.32856998A>G
ASIP RefSeqGene NG_011439.1:g.13828= NG_011439.1:g.13828A>G
ASIP transcript NM_001672.2:c.*25= NM_001672.2:c.*25A>G
ASIP transcript variant 1 NM_001672.3:c.*25= NM_001672.3:c.*25A>G
ASIP transcript variant X1 XM_011528820.2:c.*25= XM_011528820.2:c.*25A>G
ASIP transcript variant X2 XM_011528820.1:c.*25= XM_011528820.1:c.*25A>G
ASIP transcript variant 2 NM_001385218.1:c.*25= NM_001385218.1:c.*25A>G
ASIP transcript variant X2 XM_011528821.1:c.*25= XM_011528821.1:c.*25A>G
AHCY transcript variant X1 XM_047439962.1:c.*7+11835= XM_047439962.1:c.*7+11835T>C
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#.

85 SubSNP, 20 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8372491 Apr 21, 2003 (114)
2 CSHL-HAPMAP ss17697993 Feb 27, 2004 (120)
3 PERLEGEN ss23567246 Sep 20, 2004 (123)
4 SNP500CANCER ss48292736 Mar 14, 2006 (126)
5 SI_EXO ss76888400 Dec 06, 2007 (129)
6 HGSV ss78893986 Dec 06, 2007 (129)
7 HGSV ss85126291 Dec 14, 2007 (130)
8 BCMHGSC_JDW ss91687852 Mar 24, 2008 (129)
9 ILLUMINA-UK ss117532431 Feb 14, 2009 (130)
10 GMI ss156386127 Dec 01, 2009 (131)
11 ILLUMINA ss160761462 Dec 01, 2009 (131)
12 BUSHMAN ss203877251 Jul 04, 2010 (132)
13 1000GENOMES ss212018576 Jul 14, 2010 (132)
14 1000GENOMES ss228333833 Jul 14, 2010 (132)
15 1000GENOMES ss237819084 Jul 15, 2010 (132)
16 1000GENOMES ss243992679 Jul 15, 2010 (132)
17 GMI ss283367970 May 04, 2012 (137)
18 PJP ss292644597 May 09, 2011 (134)
19 ILLUMINA ss482214138 Sep 08, 2015 (146)
20 1000GENOMES ss491175433 May 04, 2012 (137)
21 SSMP ss662107063 Apr 25, 2013 (138)
22 NHLBI-ESP ss713565141 Apr 25, 2013 (138)
23 JMKIDD_LAB ss974509454 Aug 21, 2014 (142)
24 EVA-GONL ss994684012 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1067597535 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1082178409 Aug 21, 2014 (142)
27 1000GENOMES ss1364626247 Aug 21, 2014 (142)
28 DDI ss1429045021 Apr 01, 2015 (144)
29 OMIM-CURATED-RECORDS ss1505810869 Dec 08, 2014 (142)
30 EVA_GENOME_DK ss1579493651 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1638702754 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1681696787 Apr 01, 2015 (144)
33 EVA_EXAC ss1693959101 Apr 01, 2015 (144)
34 EVA_DECODE ss1698742711 Apr 01, 2015 (144)
35 HAMMER_LAB ss1809486134 Sep 08, 2015 (146)
36 WEILL_CORNELL_DGM ss1938197504 Feb 12, 2016 (147)
37 ILLUMINA ss1959911464 Feb 12, 2016 (147)
38 JJLAB ss2029881057 Sep 14, 2016 (149)
39 USC_VALOUEV ss2158445134 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2242447127 Dec 20, 2016 (150)
41 SYSTEMSBIOZJU ss2629434314 Nov 08, 2017 (151)
42 GRF ss2704135077 Nov 08, 2017 (151)
43 GNOMAD ss2744548806 Nov 08, 2017 (151)
44 GNOMAD ss2750365315 Nov 08, 2017 (151)
45 GNOMAD ss2967003757 Nov 08, 2017 (151)
46 SWEGEN ss3018127139 Nov 08, 2017 (151)
47 ILLUMINA ss3022115080 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3028773506 Nov 08, 2017 (151)
49 CSHL ss3352496909 Nov 08, 2017 (151)
50 ILLUMINA ss3636525905 Oct 12, 2018 (152)
51 ILLUMINA ss3652570092 Oct 12, 2018 (152)
52 EGCUT_WGS ss3684806609 Jul 13, 2019 (153)
53 EVA_DECODE ss3706874837 Jul 13, 2019 (153)
54 ACPOP ss3743364914 Jul 13, 2019 (153)
55 EVA ss3758597600 Jul 13, 2019 (153)
56 PACBIO ss3788639026 Jul 13, 2019 (153)
57 PACBIO ss3793532834 Jul 13, 2019 (153)
58 PACBIO ss3798419728 Jul 13, 2019 (153)
59 KHV_HUMAN_GENOMES ss3821766413 Jul 13, 2019 (153)
60 EVA ss3825363353 Apr 27, 2020 (154)
61 EVA ss3825951256 Apr 27, 2020 (154)
62 EVA ss3835656063 Apr 27, 2020 (154)
63 SGDP_PRJ ss3889029067 Apr 27, 2020 (154)
64 KRGDB ss3939300460 Apr 27, 2020 (154)
65 FSA-LAB ss3984215561 Apr 26, 2021 (155)
66 EVA ss3985876792 Apr 26, 2021 (155)
67 EVA ss3986828456 Apr 26, 2021 (155)
68 TOPMED ss5087325980 Apr 26, 2021 (155)
69 TOMMO_GENOMICS ss5229477423 Apr 26, 2021 (155)
70 1000G_HIGH_COVERAGE ss5308671837 Oct 13, 2022 (156)
71 EVA ss5437168079 Oct 13, 2022 (156)
72 HUGCELL_USP ss5500961488 Oct 13, 2022 (156)
73 EVA ss5512205829 Oct 13, 2022 (156)
74 1000G_HIGH_COVERAGE ss5615070080 Oct 13, 2022 (156)
75 EVA ss5624113297 Oct 13, 2022 (156)
76 SANFORD_IMAGENETICS ss5663146476 Oct 13, 2022 (156)
77 TOMMO_GENOMICS ss5789223368 Oct 13, 2022 (156)
78 EVA ss5800074482 Oct 13, 2022 (156)
79 EVA ss5800229229 Oct 13, 2022 (156)
80 YY_MCH ss5818016188 Oct 13, 2022 (156)
81 EVA ss5845645899 Oct 13, 2022 (156)
82 EVA ss5848546831 Oct 13, 2022 (156)
83 EVA ss5853126940 Oct 13, 2022 (156)
84 EVA ss5923279474 Oct 13, 2022 (156)
85 EVA ss5958055774 Oct 13, 2022 (156)
86 1000Genomes NC_000020.10 - 32856998 Oct 12, 2018 (152)
87 1000Genomes_30x NC_000020.11 - 34269192 Oct 13, 2022 (156)
88 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 32856998 Oct 12, 2018 (152)
89 Genetic variation in the Estonian population NC_000020.10 - 32856998 Oct 12, 2018 (152)
90 ExAC NC_000020.10 - 32856998 Oct 12, 2018 (152)
91 The Danish reference pan genome NC_000020.10 - 32856998 Apr 27, 2020 (154)
92 gnomAD - Genomes NC_000020.11 - 34269192 Apr 26, 2021 (155)
93 gnomAD - Exomes NC_000020.10 - 32856998 Jul 13, 2019 (153)
94 GO Exome Sequencing Project NC_000020.10 - 32856998 Oct 12, 2018 (152)
95 KOREAN population from KRGDB NC_000020.10 - 32856998 Apr 27, 2020 (154)
96 Northern Sweden NC_000020.10 - 32856998 Jul 13, 2019 (153)
97 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000020.10 - 32856998 Apr 26, 2021 (155)
98 Qatari NC_000020.10 - 32856998 Apr 27, 2020 (154)
99 SGDP_PRJ NC_000020.10 - 32856998 Apr 27, 2020 (154)
100 Siberian NC_000020.10 - 32856998 Apr 27, 2020 (154)
101 8.3KJPN NC_000020.10 - 32856998 Apr 26, 2021 (155)
102 14KJPN NC_000020.11 - 34269192 Oct 13, 2022 (156)
103 TopMed NC_000020.11 - 34269192 Apr 26, 2021 (155)
104 UK 10K study - Twins NC_000020.10 - 32856998 Oct 12, 2018 (152)
105 ALFA NC_000020.11 - 34269192 Apr 26, 2021 (155)
106 ClinVar RCV000009892.7 Oct 13, 2022 (156)
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)
rs57373206 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78893986, ss85126291, ss91687852, ss117532431, ss203877251, ss212018576, ss283367970, ss292644597, ss1698742711 NC_000020.9:32320658:A:G NC_000020.11:34269191:A:G (self)
78084507, 43222769, 30544857, 5511219, 5658590, 13869035, 1820257, 46477854, 16649779, 1102719, 20239426, 41046047, 10961488, 87446730, 43222769, ss228333833, ss237819084, ss243992679, ss482214138, ss491175433, ss662107063, ss713565141, ss974509454, ss994684012, ss1067597535, ss1082178409, ss1364626247, ss1429045021, ss1579493651, ss1638702754, ss1681696787, ss1693959101, ss1809486134, ss1938197504, ss1959911464, ss2029881057, ss2158445134, ss2629434314, ss2704135077, ss2744548806, ss2750365315, ss2967003757, ss3018127139, ss3022115080, ss3352496909, ss3636525905, ss3652570092, ss3684806609, ss3743364914, ss3758597600, ss3788639026, ss3793532834, ss3798419728, ss3825363353, ss3825951256, ss3835656063, ss3889029067, ss3939300460, ss3984215561, ss3985876792, ss3986828456, ss5229477423, ss5437168079, ss5512205829, ss5624113297, ss5663146476, ss5800074482, ss5800229229, ss5845645899, ss5848546831, ss5958055774 NC_000020.10:32856997:A:G NC_000020.11:34269191:A:G (self)
RCV000009892.7, 102596015, 550788296, 123060472, 362434925, 1756520207, ss1505810869, ss2242447127, ss3028773506, ss3706874837, ss3821766413, ss5087325980, ss5308671837, ss5500961488, ss5615070080, ss5789223368, ss5818016188, ss5853126940, ss5923279474 NC_000020.11:34269191:A:G NC_000020.11:34269191:A:G (self)
ss23567246, ss48292736, ss156386127, ss160761462 NT_011362.10:3053089:A:G NC_000020.11:34269191:A:G (self)
ss8372491, ss17697993 NT_028392.4:3023765:A:G NC_000020.11:34269191:A:G (self)
ss76888400 NT_028392.5:3053089:A:G NC_000020.11:34269191:A:G (self)
Help

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

14 citations for rs6058017
PMID Title Author Year Journal
11833005 A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Kanetsky PA et al. 2002 American journal 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
18488028 Two newly identified genetic determinants of pigmentation in Europeans. Sulem P et al. 2008 Nature 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
19995372 Melanoma susceptibility variants on chromosome 20q11.22 are associated with pigmentary traits and the risk of nonmelanoma skin cancer. Nan H et al. 2010 The British journal of dermatology
20158590 Predicting phenotype from genotype: normal pigmentation. Valenzuela RK et al. 2010 Journal of forensic sciences
20546537 Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. Gerstenblith MR et al. 2010 Pigment cell & melanoma research
21197618 Model-based prediction of human hair color using DNA variants. Branicki W et al. 2011 Human genetics
21221757 ASIP genetic variants and the number of non-melanoma skin cancers. Lin W et al. 2011 Cancer causes & control
24809478 Implications of the admixture process in skin color molecular assessment. Cerqueira CC et al. 2014 PloS one
24890271 Polymorphisms in vitamin D-related genes and risk of uterine leiomyomata. Wise LA et al. 2014 Fertility and sterility
25801600 SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes. Lima FA et al. 2015 Legal medicine (Tokyo, Japan)
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
30980179 Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches. Zaorska K et al. 2019 Human genetics
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

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.post761+d5e8e07