Name: rs1545397
Published: September 21, 2022
License: Open Access

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.

rs1545397

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:27942626 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.120949 (32014/264690, TOPMED)
T=0.093688 (13129/140136, GnomAD)
T=0.24133 (18992/78696, PAGE_STUDY) (+ 17 more)
A=0.05761 (1628/28258, 14KJPN)
T=0.07782 (1470/18890, ALFA)
A=0.05680 (952/16760, 8.3KJPN)
T=0.2486 (1592/6404, 1000G_30x)
T=0.2616 (1310/5008, 1000G)
T=0.0692 (310/4480, Estonian)
T=0.0586 (226/3854, ALSPAC)
T=0.0572 (212/3708, TWINSUK)
A=0.0956 (280/2930, KOREAN)
T=0.074 (74/998, GoNL)
T=0.063 (38/600, NorthernSweden)
T=0.284 (93/328, HapMap)
A=0.234 (65/278, SGDP_PRJ)
T=0.032 (7/216, Qatari)
A=0.181 (39/216, Vietnamese)
T=0.05 (2/40, GENOME_DK)
A=0.31 (10/32, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: OCA2 : Intron Variant
Publications: 5 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	18890	A=0.92218	T=0.07782
European	Sub	14286	A=0.93147	T=0.06853
African	Sub	2946	A=0.9728	T=0.0272
African Others	Sub	114	A=0.974	T=0.026
African American	Sub	2832	A=0.9728	T=0.0272
Asian	Sub	112	A=0.152	T=0.848
East Asian	Sub	86	A=0.09	T=0.91
Other Asian	Sub	26	A=0.35	T=0.65
Latin American 1	Sub	146	A=0.904	T=0.096
Latin American 2	Sub	610	A=0.675	T=0.325
South Asian	Sub	98	A=0.91	T=0.09
Other	Sub	692	A=0.863	T=0.137

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=0.879051	T=0.120949
gnomAD - Genomes	Global	Study-wide	140136	A=0.906312	T=0.093688
gnomAD - Genomes	European	Sub	75896	A=0.92820	T=0.07180
gnomAD - Genomes	African	Sub	42026	A=0.97047	T=0.02953
gnomAD - Genomes	American	Sub	13620	A=0.77159	T=0.22841
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.9025	T=0.0975
gnomAD - Genomes	East Asian	Sub	3122	A=0.1275	T=0.8725
gnomAD - Genomes	Other	Sub	2148	A=0.8696	T=0.1304
The PAGE Study	Global	Study-wide	78696	A=0.75867	T=0.24133
The PAGE Study	AfricanAmerican	Sub	32514	A=0.96881	T=0.03119
The PAGE Study	Mexican	Sub	10808	A=0.63906	T=0.36094
The PAGE Study	Asian	Sub	8316	A=0.0860	T=0.9140
The PAGE Study	PuertoRican	Sub	7918	A=0.8615	T=0.1385
The PAGE Study	NativeHawaiian	Sub	4534	A=0.3924	T=0.6076
The PAGE Study	Cuban	Sub	4230	A=0.9040	T=0.0960
The PAGE Study	Dominican	Sub	3828	A=0.8877	T=0.1123
The PAGE Study	CentralAmerican	Sub	2450	A=0.6776	T=0.3224
The PAGE Study	SouthAmerican	Sub	1982	A=0.6761	T=0.3239
The PAGE Study	NativeAmerican	Sub	1260	A=0.8317	T=0.1683
The PAGE Study	SouthAsian	Sub	856	A=0.832	T=0.168
14KJPN	JAPANESE	Study-wide	28258	A=0.05761	T=0.94239
Allele Frequency Aggregator	Total	Global	18890	A=0.92218	T=0.07782
Allele Frequency Aggregator	European	Sub	14286	A=0.93147	T=0.06853
Allele Frequency Aggregator	African	Sub	2946	A=0.9728	T=0.0272
Allele Frequency Aggregator	Other	Sub	692	A=0.863	T=0.137
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.675	T=0.325
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.904	T=0.096
Allele Frequency Aggregator	Asian	Sub	112	A=0.152	T=0.848
Allele Frequency Aggregator	South Asian	Sub	98	A=0.91	T=0.09
8.3KJPN	JAPANESE	Study-wide	16760	A=0.05680	T=0.94320
1000Genomes_30x	Global	Study-wide	6404	A=0.7514	T=0.2486
1000Genomes_30x	African	Sub	1786	A=0.9877	T=0.0123
1000Genomes_30x	Europe	Sub	1266	A=0.9234	T=0.0766
1000Genomes_30x	South Asian	Sub	1202	A=0.8785	T=0.1215
1000Genomes_30x	East Asian	Sub	1170	A=0.1205	T=0.8795
1000Genomes_30x	American	Sub	980	A=0.696	T=0.304
1000Genomes	Global	Study-wide	5008	A=0.7384	T=0.2616
1000Genomes	African	Sub	1322	A=0.9849	T=0.0151
1000Genomes	East Asian	Sub	1008	A=0.1171	T=0.8829
1000Genomes	Europe	Sub	1006	A=0.9225	T=0.0775
1000Genomes	South Asian	Sub	978	A=0.882	T=0.118
1000Genomes	American	Sub	694	A=0.702	T=0.298
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9308	T=0.0692
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9414	T=0.0586
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9428	T=0.0572
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0956	T=0.9044
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.926	T=0.074
Northern Sweden	ACPOP	Study-wide	600	A=0.937	T=0.063
HapMap	Global	Study-wide	328	A=0.716	T=0.284
HapMap	African	Sub	120	A=1.000	T=0.000
HapMap	American	Sub	120	A=0.950	T=0.050
HapMap	Asian	Sub	88	A=0.01	T=0.99
SGDP_PRJ	Global	Study-wide	278	A=0.234	T=0.766
Qatari	Global	Study-wide	216	A=0.968	T=0.032
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.181	T=0.819
The Danish reference pan genome	Danish	Study-wide	40	A=0.95	T=0.05
Siberian	Global	Study-wide	32	A=0.31	T=0.69

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 15	NC_000015.10:g.27942626A>T
GRCh37.p13 chr 15	NC_000015.9:g.28187772A>T
OCA2 RefSeqGene	NG_009846.1:g.161687T>A
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.76913A>T
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.76913A>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.1951+9158T>A	N/A	Intron Variant
OCA2 transcript variant 2	NM_001300984.2:c.1879+915… NM_001300984.2:c.1879+9158T>A	N/A	Intron Variant
OCA2 transcript variant X2	XM_011521640.3:c.1951+915… XM_011521640.3:c.1951+9158T>A	N/A	Intron Variant
OCA2 transcript variant X1	XM_017022255.2:c.1975+915… XM_017022255.2:c.1975+9158T>A	N/A	Intron Variant
OCA2 transcript variant X3	XM_017022256.2:c.1975+915… XM_017022256.2:c.1975+9158T>A	N/A	Intron Variant
OCA2 transcript variant X4	XM_017022257.2:c.1903+915… XM_017022257.2:c.1903+9158T>A	N/A	Intron Variant
OCA2 transcript variant X5	XM_017022258.2:c.1975+915… XM_017022258.2:c.1975+9158T>A	N/A	Intron Variant
OCA2 transcript variant X8	XM_017022259.2:c.1903+915… XM_017022259.2:c.1903+9158T>A	N/A	Intron Variant
OCA2 transcript variant X9	XM_017022260.2:c.1837+915… XM_017022260.2:c.1837+9158T>A	N/A	Intron Variant
OCA2 transcript variant X14	XM_017022261.2:c.1780+915… XM_017022261.2:c.1780+9158T>A	N/A	Intron Variant
OCA2 transcript variant X15	XM_017022262.2:c.1975+915… XM_017022262.2:c.1975+9158T>A	N/A	Intron Variant
OCA2 transcript variant X17	XM_017022263.2:c.1975+915… XM_017022263.2:c.1975+9158T>A	N/A	Intron Variant
OCA2 transcript variant X20	XM_017022264.2:c.1975+915… XM_017022264.2:c.1975+9158T>A	N/A	Intron Variant
OCA2 transcript variant X6	XM_047432605.1:c.1879+915… XM_047432605.1:c.1879+9158T>A	N/A	Intron Variant
OCA2 transcript variant X7	XM_047432606.1:c.1951+915… XM_047432606.1:c.1951+9158T>A	N/A	Intron Variant
OCA2 transcript variant X10	XM_047432607.1:c.1903+915… XM_047432607.1:c.1903+9158T>A	N/A	Intron Variant
OCA2 transcript variant X11	XM_047432608.1:c.1813+915… XM_047432608.1:c.1813+9158T>A	N/A	Intron Variant
OCA2 transcript variant X12	XM_047432609.1:c.1879+915… XM_047432609.1:c.1879+9158T>A	N/A	Intron Variant
OCA2 transcript variant X13	XM_047432610.1:c.1837+915… XM_047432610.1:c.1837+9158T>A	N/A	Intron Variant
OCA2 transcript variant X16	XM_047432611.1:c.1813+915… XM_047432611.1:c.1813+9158T>A	N/A	Intron Variant
OCA2 transcript variant X18	XM_047432612.1:c.1951+915… XM_047432612.1:c.1951+9158T>A	N/A	Intron Variant
OCA2 transcript variant X19	XM_047432613.1:c.1951+915… XM_047432613.1:c.1951+9158T>A	N/A	Intron Variant
OCA2 transcript variant X21	XM_047432614.1:c.1951+915… XM_047432614.1:c.1951+9158T>A	N/A	Intron Variant
OCA2 transcript variant X22	XM_047432615.1:c.1903+915… XM_047432615.1:c.1903+9158T>A	N/A	Intron Variant
OCA2 transcript variant X23	XM_047432616.1:c.1903+915… XM_047432616.1:c.1903+9158T>A	N/A	Intron Variant
OCA2 transcript variant X24	XM_047432617.1:c.1879+915… XM_047432617.1:c.1879+9158T>A	N/A	Intron Variant
OCA2 transcript variant X25	XM_047432618.1:c.1879+915… XM_047432618.1:c.1879+9158T>A	N/A	Intron Variant
OCA2 transcript variant X26	XM_047432619.1:c.1813+915… XM_047432619.1:c.1813+9158T>A	N/A	Intron Variant
OCA2 transcript variant X27	XM_017022265.2:c.	N/A	Genic Downstream Transcript Variant
OCA2 transcript variant X28	XR_001751294.2:n.	N/A	Genic Downstream Transcript 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.

Not Reported in ClinVar

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=	T
GRCh38.p14 chr 15	NC_000015.10:g.27942626=	NC_000015.10:g.27942626A>T
GRCh37.p13 chr 15	NC_000015.9:g.28187772=	NC_000015.9:g.28187772A>T
OCA2 RefSeqGene	NG_009846.1:g.161687=	NG_009846.1:g.161687T>A
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.76913=	NW_011332701.1:g.76913A>T
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.76913=	NT_187660.1:g.76913A>T
OCA2 transcript variant 1	NM_000275.2:c.1951+9158=	NM_000275.2:c.1951+9158T>A
OCA2 transcript variant 1	NM_000275.3:c.1951+9158=	NM_000275.3:c.1951+9158T>A
OCA2 transcript variant 2	NM_001300984.2:c.1879+9158=	NM_001300984.2:c.1879+9158T>A
OCA2 transcript variant X1	XM_005268259.1:c.1879+9158=	XM_005268259.1:c.1879+9158T>A
OCA2 transcript variant X2	XM_011521640.3:c.1951+9158=	XM_011521640.3:c.1951+9158T>A
OCA2 transcript variant X1	XM_017022255.2:c.1975+9158=	XM_017022255.2:c.1975+9158T>A
OCA2 transcript variant X3	XM_017022256.2:c.1975+9158=	XM_017022256.2:c.1975+9158T>A
OCA2 transcript variant X4	XM_017022257.2:c.1903+9158=	XM_017022257.2:c.1903+9158T>A
OCA2 transcript variant X5	XM_017022258.2:c.1975+9158=	XM_017022258.2:c.1975+9158T>A
OCA2 transcript variant X8	XM_017022259.2:c.1903+9158=	XM_017022259.2:c.1903+9158T>A
OCA2 transcript variant X9	XM_017022260.2:c.1837+9158=	XM_017022260.2:c.1837+9158T>A
OCA2 transcript variant X14	XM_017022261.2:c.1780+9158=	XM_017022261.2:c.1780+9158T>A
OCA2 transcript variant X15	XM_017022262.2:c.1975+9158=	XM_017022262.2:c.1975+9158T>A
OCA2 transcript variant X17	XM_017022263.2:c.1975+9158=	XM_017022263.2:c.1975+9158T>A
OCA2 transcript variant X20	XM_017022264.2:c.1975+9158=	XM_017022264.2:c.1975+9158T>A
OCA2 transcript variant X6	XM_047432605.1:c.1879+9158=	XM_047432605.1:c.1879+9158T>A
OCA2 transcript variant X7	XM_047432606.1:c.1951+9158=	XM_047432606.1:c.1951+9158T>A
OCA2 transcript variant X10	XM_047432607.1:c.1903+9158=	XM_047432607.1:c.1903+9158T>A
OCA2 transcript variant X11	XM_047432608.1:c.1813+9158=	XM_047432608.1:c.1813+9158T>A
OCA2 transcript variant X12	XM_047432609.1:c.1879+9158=	XM_047432609.1:c.1879+9158T>A
OCA2 transcript variant X13	XM_047432610.1:c.1837+9158=	XM_047432610.1:c.1837+9158T>A
OCA2 transcript variant X16	XM_047432611.1:c.1813+9158=	XM_047432611.1:c.1813+9158T>A
OCA2 transcript variant X18	XM_047432612.1:c.1951+9158=	XM_047432612.1:c.1951+9158T>A
OCA2 transcript variant X19	XM_047432613.1:c.1951+9158=	XM_047432613.1:c.1951+9158T>A
OCA2 transcript variant X21	XM_047432614.1:c.1951+9158=	XM_047432614.1:c.1951+9158T>A
OCA2 transcript variant X22	XM_047432615.1:c.1903+9158=	XM_047432615.1:c.1903+9158T>A
OCA2 transcript variant X23	XM_047432616.1:c.1903+9158=	XM_047432616.1:c.1903+9158T>A
OCA2 transcript variant X24	XM_047432617.1:c.1879+9158=	XM_047432617.1:c.1879+9158T>A
OCA2 transcript variant X25	XM_047432618.1:c.1879+9158=	XM_047432618.1:c.1879+9158T>A
OCA2 transcript variant X26	XM_047432619.1:c.1813+9158=	XM_047432619.1:c.1813+9158T>A

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#.

56 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2387680	Oct 23, 2000 (88)
2	WI_SSAHASNP	ss6592585	Feb 20, 2003 (111)
3	CSHL-HAPMAP	ss19313058	Feb 27, 2004 (120)
4	ABI	ss43775327	Mar 15, 2006 (126)
5	BGI	ss106418840	Feb 04, 2009 (130)
6	BCM-HGSC-SUB	ss207364079	Jul 04, 2010 (132)
7	1000GENOMES	ss236722362	Jul 15, 2010 (132)
8	1000GENOMES	ss243120417	Jul 15, 2010 (132)
9	GMI	ss282192636	May 04, 2012 (137)
10	PJP	ss291808160	May 09, 2011 (134)
11	SSMP	ss660095161	Apr 25, 2013 (138)
12	EVA-GONL	ss991623569	Aug 21, 2014 (142)
13	JMKIDD_LAB	ss1080002687	Aug 21, 2014 (142)
14	1000GENOMES	ss1352817818	Aug 21, 2014 (142)
15	EVA_GENOME_DK	ss1577522554	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1632669485	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1675663518	Apr 01, 2015 (144)
18	EVA_DECODE	ss1695635119	Apr 01, 2015 (144)
19	WEILL_CORNELL_DGM	ss1935020672	Feb 12, 2016 (147)
20	ILLUMINA	ss1959597389	Feb 12, 2016 (147)
21	GENOMED	ss1968070589	Jul 19, 2016 (147)
22	JJLAB	ss2028290643	Sep 14, 2016 (149)
23	USC_VALOUEV	ss2156687612	Dec 20, 2016 (150)
24	HUMAN_LONGEVITY	ss2205521363	Dec 20, 2016 (150)
25	SYSTEMSBIOZJU	ss2628638431	Nov 08, 2017 (151)
26	GRF	ss2701146632	Nov 08, 2017 (151)
27	GNOMAD	ss2932977296	Nov 08, 2017 (151)
28	SWEGEN	ss3013004860	Nov 08, 2017 (151)
29	ILLUMINA	ss3021616122	Nov 08, 2017 (151)
30	BIOINF_KMB_FNS_UNIBA	ss3027969566	Nov 08, 2017 (151)
31	CSHL	ss3351041657	Nov 08, 2017 (151)
32	ILLUMINA	ss3652015449	Oct 12, 2018 (152)
33	EGCUT_WGS	ss3680176344	Jul 13, 2019 (153)
34	EVA_DECODE	ss3697582991	Jul 13, 2019 (153)
35	ILLUMINA	ss3725484641	Jul 13, 2019 (153)
36	ACPOP	ss3740786624	Jul 13, 2019 (153)
37	EVA	ss3752890396	Jul 13, 2019 (153)
38	PAGE_CC	ss3771818382	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3818207657	Jul 13, 2019 (153)
40	EVA	ss3834156284	Apr 27, 2020 (154)
41	SGDP_PRJ	ss3882550294	Apr 27, 2020 (154)
42	KRGDB	ss3931674193	Apr 27, 2020 (154)
43	EVA	ss3985706922	Apr 26, 2021 (155)
44	VINODS	ss4031998936	Apr 26, 2021 (155)
45	TOPMED	ss4985690901	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5215401401	Apr 26, 2021 (155)
47	1000G_HIGH_COVERAGE	ss5297857350	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5491673902	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5598967222	Oct 16, 2022 (156)
50	SANFORD_IMAGENETICS	ss5657173656	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5768975371	Oct 16, 2022 (156)
52	YY_MCH	ss5815187797	Oct 16, 2022 (156)
53	EVA	ss5827982273	Oct 16, 2022 (156)
54	EVA	ss5851227395	Oct 16, 2022 (156)
55	EVA	ss5875246671	Oct 16, 2022 (156)
56	EVA	ss5948584248	Oct 16, 2022 (156)
57	1000Genomes	NC_000015.9 - 28187772	Oct 12, 2018 (152)
58	1000Genomes_30x	NC_000015.10 - 27942626	Oct 16, 2022 (156)
59	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 28187772	Oct 12, 2018 (152)
60	Genetic variation in the Estonian population	NC_000015.9 - 28187772	Oct 12, 2018 (152)
61	The Danish reference pan genome	NC_000015.9 - 28187772	Apr 27, 2020 (154)
62	gnomAD - Genomes	NC_000015.10 - 27942626	Apr 26, 2021 (155)
63	Genome of the Netherlands Release 5	NC_000015.9 - 28187772	Apr 27, 2020 (154)
64	HapMap	NC_000015.10 - 27942626	Apr 27, 2020 (154)
65	KOREAN population from KRGDB	NC_000015.9 - 28187772	Apr 27, 2020 (154)
66	Northern Sweden	NC_000015.9 - 28187772	Jul 13, 2019 (153)
67	The PAGE Study	NC_000015.10 - 27942626	Jul 13, 2019 (153)
68	Qatari	NC_000015.9 - 28187772	Apr 27, 2020 (154)
69	SGDP_PRJ	NC_000015.9 - 28187772	Apr 27, 2020 (154)
70	Siberian	NC_000015.9 - 28187772	Apr 27, 2020 (154)
71	8.3KJPN	NC_000015.9 - 28187772	Apr 26, 2021 (155)
72	14KJPN	NC_000015.10 - 27942626	Oct 16, 2022 (156)
73	TopMed	NC_000015.10 - 27942626	Apr 26, 2021 (155)
74	UK 10K study - Twins	NC_000015.9 - 28187772	Oct 12, 2018 (152)
75	A Vietnamese Genetic Variation Database	NC_000015.9 - 28187772	Jul 13, 2019 (153)
76	ALFA	NC_000015.10 - 27942626	Apr 26, 2021 (155)

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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss207364079, ss282192636, ss291808160, ss1695635119	NC_000015.8:25861366:A:T	NC_000015.10:27942625:A:T	(self)
65864845, 36573387, 25914592, 3792366, 16337510, 38851587, 14071489, 17062602, 34567274, 9203966, 73370708, 36573387, 8137540, ss236722362, ss243120417, ss660095161, ss991623569, ss1080002687, ss1352817818, ss1577522554, ss1632669485, ss1675663518, ss1935020672, ss1959597389, ss1968070589, ss2028290643, ss2156687612, ss2628638431, ss2701146632, ss2932977296, ss3013004860, ss3021616122, ss3351041657, ss3652015449, ss3680176344, ss3740786624, ss3752890396, ss3834156284, ss3882550294, ss3931674193, ss3985706922, ss5215401401, ss5657173656, ss5827982273, ss5948584248	NC_000015.9:28187771:A:T	NC_000015.10:27942625:A:T	(self)
86493157, 464252668, 1232443, 1039851, 102812475, 201236561, 4015719876, ss2205521363, ss3027969566, ss3697582991, ss3725484641, ss3771818382, ss3818207657, ss4985690901, ss5297857350, ss5491673902, ss5598967222, ss5768975371, ss5815187797, ss5851227395, ss5875246671	NC_000015.10:27942625:A:T	NC_000015.10:27942625:A:T	(self)
ss19313058	NT_010280.16:553262:A:T	NC_000015.10:27942625:A:T	(self)
ss2387680, ss6592585, ss43775327, ss106418840	NT_026446.14:4622918:A:T	NC_000015.10:27942625:A:T	(self)
ss4031998936	NT_187660.1:76912:A:T	NC_000015.10:27942625:A:T	(self)

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

5 citations for rs1545397

PMID	Title	Author	Year	Journal
20221248	Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.	Edwards M et al.	2010	PLoS genetics
23771755	Improved eye- and skin-color prediction based on 8 SNPs.	Hart KL et al.	2013	Croatian medical journal
26690364	Genetic differences among ethnic groups.	Huang T et al.	2015	BMC genomics
32387914	The challenge of predicting human pigmentation traits in degraded bone samples with the MPS-based HIrisPlex-S system.	Kukla-Bartoszek M et al.	2020	Forensic science international. Genetics
33083459	Skin Pigmentation Differences between Mongolian, Korean, and Uzbekistan Ancient Human DNA Samples.	Bazarragchaa M et al.	2020	BioMed research international

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1545397