Name: rs1800401
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.

rs1800401

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:28014907 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.079595 (21068/264690, TOPMED)
A=0.063245 (15874/250992, GnomAD_exome)
A=0.057194 (14278/249642, ALFA) (+ 24 more)
A=0.076592 (10735/140158, GnomAD)
A=0.065635 (7851/119616, ExAC)
A=0.08236 (6482/78702, PAGE_STUDY)
A=0.00340 (96/28258, 14KJPN)
A=0.00352 (59/16760, 8.3KJPN)
A=0.0846 (542/6404, 1000G_30x)
A=0.0825 (413/5008, 1000G)
A=0.0395 (177/4480, Estonian)
A=0.0576 (222/3854, ALSPAC)
A=0.0499 (185/3708, TWINSUK)
A=0.0120 (35/2922, KOREAN)
A=0.1142 (129/1130, Daghestan)
A=0.047 (47/998, GoNL)
A=0.010 (8/792, PRJEB37584)
A=0.016 (10/614, Vietnamese)
A=0.033 (20/600, NorthernSweden)
A=0.086 (46/534, MGP)
A=0.013 (4/300, FINRISK)
A=0.139 (30/216, Qatari)
A=0.08 (6/74, Ancient Sardinia)
G=0.46 (24/52, SGDP_PRJ)
A=0.07 (3/40, GENOME_DK)
G=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: OCA2 : Missense Variant
Publications: 15 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	266082	G=0.941713	A=0.058287	0.887832	0.004405	0.107764	24
European	Sub	215764	G=0.945783	A=0.054217	0.894996	0.00343	0.101574	6
African	Sub	14648	G=0.86128	A=0.13872	0.740306	0.01775	0.241944	1
African Others	Sub	520	G=0.823	A=0.177	0.665385	0.019231	0.315385	1
African American	Sub	14128	G=0.86268	A=0.13732	0.743063	0.017695	0.239241	0
Asian	Sub	6690	G=0.9928	A=0.0072	0.98565	0.0	0.01435	0
East Asian	Sub	4800	G=0.9929	A=0.0071	0.985833	0.0	0.014167	0
Other Asian	Sub	1890	G=0.9926	A=0.0074	0.985185	0.0	0.014815	0
Latin American 1	Sub	1246	G=0.9334	A=0.0666	0.868379	0.001605	0.130016	1
Latin American 2	Sub	5348	G=0.9637	A=0.0363	0.92745	0.0	0.07255	2
South Asian	Sub	362	G=0.851	A=0.149	0.729282	0.027624	0.243094	0
Other	Sub	22024	G=0.93643	A=0.06357	0.880131	0.007265	0.112604	18

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.920405	A=0.079595
gnomAD - Exomes	Global	Study-wide	250992	G=0.936755	A=0.063245
gnomAD - Exomes	European	Sub	135028	G=0.952003	A=0.047997
gnomAD - Exomes	Asian	Sub	48982	G=0.91842	A=0.08158
gnomAD - Exomes	American	Sub	34564	G=0.96485	A=0.03515
gnomAD - Exomes	African	Sub	16214	G=0.86283	A=0.13717
gnomAD - Exomes	Ashkenazi Jewish	Sub	10074	G=0.84624	A=0.15376
gnomAD - Exomes	Other	Sub	6130	G=0.9333	A=0.0667
Allele Frequency Aggregator	Total	Global	249642	G=0.942806	A=0.057194
Allele Frequency Aggregator	European	Sub	205598	G=0.945335	A=0.054665
Allele Frequency Aggregator	Other	Sub	20578	G=0.93615	A=0.06385
Allele Frequency Aggregator	African	Sub	9820	G=0.8629	A=0.1371
Allele Frequency Aggregator	Asian	Sub	6690	G=0.9928	A=0.0072
Allele Frequency Aggregator	Latin American 2	Sub	5348	G=0.9637	A=0.0363
Allele Frequency Aggregator	Latin American 1	Sub	1246	G=0.9334	A=0.0666
Allele Frequency Aggregator	South Asian	Sub	362	G=0.851	A=0.149
gnomAD - Genomes	Global	Study-wide	140158	G=0.923408	A=0.076592
gnomAD - Genomes	European	Sub	75924	G=0.95286	A=0.04714
gnomAD - Genomes	African	Sub	41976	G=0.86509	A=0.13491
gnomAD - Genomes	American	Sub	13654	G=0.93628	A=0.06372
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.8664	A=0.1336
gnomAD - Genomes	East Asian	Sub	3130	G=0.9907	A=0.0093
gnomAD - Genomes	Other	Sub	2150	G=0.9302	A=0.0698
ExAC	Global	Study-wide	119616	G=0.934365	A=0.065635
ExAC	Europe	Sub	72180	G=0.94676	A=0.05324
ExAC	Asian	Sub	24910	G=0.91184	A=0.08816
ExAC	American	Sub	11430	G=0.96903	A=0.03097
ExAC	African	Sub	10218	G=0.86318	A=0.13682
ExAC	Other	Sub	878	G=0.932	A=0.068
The PAGE Study	Global	Study-wide	78702	G=0.91764	A=0.08236
The PAGE Study	AfricanAmerican	Sub	32516	G=0.86711	A=0.13289
The PAGE Study	Mexican	Sub	10810	G=0.96318	A=0.03682
The PAGE Study	Asian	Sub	8318	G=0.9953	A=0.0047
The PAGE Study	PuertoRican	Sub	7918	G=0.9232	A=0.0768
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9815	A=0.0185
The PAGE Study	Cuban	Sub	4230	G=0.9291	A=0.0709
The PAGE Study	Dominican	Sub	3828	G=0.9033	A=0.0967
The PAGE Study	CentralAmerican	Sub	2450	G=0.9584	A=0.0416
The PAGE Study	SouthAmerican	Sub	1982	G=0.9511	A=0.0489
The PAGE Study	NativeAmerican	Sub	1260	G=0.9595	A=0.0405
The PAGE Study	SouthAsian	Sub	856	G=0.869	A=0.131
14KJPN	JAPANESE	Study-wide	28258	G=0.99660	A=0.00340
8.3KJPN	JAPANESE	Study-wide	16760	G=0.99648	A=0.00352
1000Genomes_30x	Global	Study-wide	6404	G=0.9154	A=0.0846
1000Genomes_30x	African	Sub	1786	G=0.8673	A=0.1327
1000Genomes_30x	Europe	Sub	1266	G=0.9400	A=0.0600
1000Genomes_30x	South Asian	Sub	1202	G=0.8619	A=0.1381
1000Genomes_30x	East Asian	Sub	1170	G=0.9957	A=0.0043
1000Genomes_30x	American	Sub	980	G=0.941	A=0.059
1000Genomes	Global	Study-wide	5008	G=0.9175	A=0.0825
1000Genomes	African	Sub	1322	G=0.8744	A=0.1256
1000Genomes	East Asian	Sub	1008	G=0.9950	A=0.0050
1000Genomes	Europe	Sub	1006	G=0.9344	A=0.0656
1000Genomes	South Asian	Sub	978	G=0.863	A=0.137
1000Genomes	American	Sub	694	G=0.939	A=0.061
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9605	A=0.0395
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9424	A=0.0576
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9501	A=0.0499
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9880	A=0.0120
Genome-wide autozygosity in Daghestan	Global	Study-wide	1130	G=0.8858	A=0.1142
Genome-wide autozygosity in Daghestan	Daghestan	Sub	624	G=0.885	A=0.115
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.868	A=0.132
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	G=0.908	A=0.092
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.907	A=0.093
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.90	A=0.10
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.81	A=0.19
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.953	A=0.047
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.990	A=0.010
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.990	A=0.010
A Vietnamese Genetic Variation Database	Global	Study-wide	614	G=0.984	A=0.016
Northern Sweden	ACPOP	Study-wide	600	G=0.967	A=0.033
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.914	A=0.086
FINRISK	Finnish from FINRISK project	Study-wide	300	G=0.987	A=0.013
Qatari	Global	Study-wide	216	G=0.861	A=0.139
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	G=0.92	A=0.08
SGDP_PRJ	Global	Study-wide	52	G=0.46	A=0.54
The Danish reference pan genome	Danish	Study-wide	40	G=0.93	A=0.07
Siberian	Global	Study-wide	6	G=0.5	A=0.5

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.28014907G>A
GRCh37.p13 chr 15	NC_000015.9:g.28260053G>A
OCA2 RefSeqGene	NG_009846.1:g.89406C>T
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.149207G>A
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.149207G>A

Gene: OCA2, OCA2 melanosomal transmembrane protein (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OCA2 transcript variant 1	NM_000275.3:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform 1	NP_000266.2:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant 2	NM_001300984.2:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform 2	NP_001287913.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X1	XM_017022255.2:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X1	XP_016877744.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X2	XM_011521640.3:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X2	XP_011519942.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X3	XM_017022256.2:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X3	XP_016877745.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X4	XM_017022257.2:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X4	XP_016877746.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X5	XM_017022258.2:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X5	XP_016877747.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X6	XM_047432605.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X6	XP_047288561.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X7	XM_047432606.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X7	XP_047288562.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X8	XM_017022259.2:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X8	XP_016877748.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X9	XM_017022260.2:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X9	XP_016877749.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X10	XM_047432607.1:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X10	XP_047288563.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X11	XM_047432608.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X11	XP_047288564.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X12	XM_047432609.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X12	XP_047288565.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X13	XM_047432610.1:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X13	XP_047288566.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X14	XM_017022261.2:c.742C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X14	XP_016877750.1:p.Arg248Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X15	XM_017022262.2:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X15	XP_016877751.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X16	XM_047432611.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X16	XP_047288567.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X17	XM_017022263.2:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X17	XP_016877752.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X18	XM_047432612.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X18	XP_047288568.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X19	XM_047432613.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X19	XP_047288569.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X20	XM_017022264.2:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X20	XP_016877753.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X21	XM_047432614.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X21	XP_047288570.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X22	XM_047432615.1:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X22	XP_047288571.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X23	XM_047432616.1:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X23	XP_047288572.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X24	XM_047432617.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X24	XP_047288573.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X25	XM_047432618.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X25	XP_047288574.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X26	XM_047432619.1:c.913C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X26	XP_047288575.1:p.Arg305Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X27	XM_017022265.2:c.937C>T	R [CGG] > W [TGG]	Coding Sequence Variant
P protein isoform X27	XP_016877754.1:p.Arg313Trp	R (Arg) > W (Trp)	Missense Variant
OCA2 transcript variant X28	XR_001751294.2:n.3238C>T	N/A	Non Coding 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.

Allele: A (allele ID: 16001 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000001013.5	Skin/hair/eye pigmentation, variation in, 1	Affects
RCV000180482.4	not specified	Benign
RCV000312067.5	Tyrosinase-positive oculocutaneous albinism	Benign
RCV001522992.6	not provided	Benign

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	G=	A
GRCh38.p14 chr 15	NC_000015.10:g.28014907=	NC_000015.10:g.28014907G>A
GRCh37.p13 chr 15	NC_000015.9:g.28260053=	NC_000015.9:g.28260053G>A
OCA2 RefSeqGene	NG_009846.1:g.89406=	NG_009846.1:g.89406C>T
OCA2 transcript variant 1	NM_000275.3:c.913=	NM_000275.3:c.913C>T
OCA2 transcript variant 1	NM_000275.2:c.913=	NM_000275.2:c.913C>T
OCA2 transcript variant 2	NM_001300984.2:c.913=	NM_001300984.2:c.913C>T
OCA2 transcript variant 2	NM_001300984.1:c.913=	NM_001300984.1:c.913C>T
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.149207=	NW_011332701.1:g.149207G>A
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.149207=	NT_187660.1:g.149207G>A
OCA2 transcript variant X2	XM_011521640.3:c.913=	XM_011521640.3:c.913C>T
OCA2 transcript variant X2	XM_011521640.2:c.913=	XM_011521640.2:c.913C>T
OCA2 transcript variant X2	XM_011521640.1:c.913=	XM_011521640.1:c.913C>T
OCA2 transcript variant X3	XM_017022256.2:c.937=	XM_017022256.2:c.937C>T
OCA2 transcript variant X3	XM_017022256.1:c.937=	XM_017022256.1:c.937C>T
OCA2 transcript variant X4	XM_017022257.2:c.937=	XM_017022257.2:c.937C>T
OCA2 transcript variant X4	XM_017022257.1:c.937=	XM_017022257.1:c.937C>T
OCA2 transcript variant X8	XM_017022259.2:c.937=	XM_017022259.2:c.937C>T
OCA2 transcript variant X6	XM_017022259.1:c.937=	XM_017022259.1:c.937C>T
OCA2 transcript variant X9	XM_017022260.2:c.937=	XM_017022260.2:c.937C>T
OCA2 transcript variant X7	XM_017022260.1:c.937=	XM_017022260.1:c.937C>T
OCA2 transcript variant X17	XM_017022263.2:c.937=	XM_017022263.2:c.937C>T
OCA2 transcript variant X10	XM_017022263.1:c.937=	XM_017022263.1:c.937C>T
OCA2 transcript variant X15	XM_017022262.2:c.937=	XM_017022262.2:c.937C>T
OCA2 transcript variant X9	XM_017022262.1:c.937=	XM_017022262.1:c.937C>T
OCA2 transcript variant X27	XM_017022265.2:c.937=	XM_017022265.2:c.937C>T
OCA2 transcript variant X12	XM_017022265.1:c.937=	XM_017022265.1:c.937C>T
OCA2 transcript variant X5	XM_017022258.2:c.937=	XM_017022258.2:c.937C>T
OCA2 transcript variant X5	XM_017022258.1:c.937=	XM_017022258.1:c.937C>T
OCA2 transcript variant X20	XM_017022264.2:c.937=	XM_017022264.2:c.937C>T
OCA2 transcript variant X11	XM_017022264.1:c.937=	XM_017022264.1:c.937C>T
OCA2 transcript variant X1	XM_017022255.2:c.937=	XM_017022255.2:c.937C>T
OCA2 transcript variant X1	XM_017022255.1:c.937=	XM_017022255.1:c.937C>T
OCA2 transcript variant X28	XR_001751294.2:n.3238=	XR_001751294.2:n.3238C>T
OCA2 transcript variant X13	XR_001751294.1:n.1026=	XR_001751294.1:n.1026C>T
OCA2 transcript variant X14	XM_017022261.2:c.742=	XM_017022261.2:c.742C>T
OCA2 transcript variant X8	XM_017022261.1:c.742=	XM_017022261.1:c.742C>T
OCA2 transcript variant X13	XM_047432610.1:c.937=	XM_047432610.1:c.937C>T
OCA2 transcript variant X23	XM_047432616.1:c.937=	XM_047432616.1:c.937C>T
OCA2 transcript variant X22	XM_047432615.1:c.937=	XM_047432615.1:c.937C>T
OCA2 transcript variant X10	XM_047432607.1:c.937=	XM_047432607.1:c.937C>T
OCA2 transcript variant X6	XM_047432605.1:c.913=	XM_047432605.1:c.913C>T
OCA2 transcript variant X11	XM_047432608.1:c.913=	XM_047432608.1:c.913C>T
OCA2 transcript variant X16	XM_047432611.1:c.913=	XM_047432611.1:c.913C>T
OCA2 transcript variant X19	XM_047432613.1:c.913=	XM_047432613.1:c.913C>T
OCA2 transcript variant X18	XM_047432612.1:c.913=	XM_047432612.1:c.913C>T
OCA2 transcript variant X24	XM_047432617.1:c.913=	XM_047432617.1:c.913C>T
OCA2 transcript variant X7	XM_047432606.1:c.913=	XM_047432606.1:c.913C>T
OCA2 transcript variant X12	XM_047432609.1:c.913=	XM_047432609.1:c.913C>T
OCA2 transcript variant X21	XM_047432614.1:c.913=	XM_047432614.1:c.913C>T
OCA2 transcript variant X25	XM_047432618.1:c.913=	XM_047432618.1:c.913C>T
OCA2 transcript variant X26	XM_047432619.1:c.913=	XM_047432619.1:c.913C>T
P protein isoform 1	NP_000266.2:p.Arg305=	NP_000266.2:p.Arg305Trp
P protein isoform 2	NP_001287913.1:p.Arg305=	NP_001287913.1:p.Arg305Trp
P protein isoform X2	XP_011519942.1:p.Arg305=	XP_011519942.1:p.Arg305Trp
P protein isoform X3	XP_016877745.1:p.Arg313=	XP_016877745.1:p.Arg313Trp
P protein isoform X4	XP_016877746.1:p.Arg313=	XP_016877746.1:p.Arg313Trp
P protein isoform X8	XP_016877748.1:p.Arg313=	XP_016877748.1:p.Arg313Trp
P protein isoform X9	XP_016877749.1:p.Arg313=	XP_016877749.1:p.Arg313Trp
P protein isoform X17	XP_016877752.1:p.Arg313=	XP_016877752.1:p.Arg313Trp
P protein isoform X15	XP_016877751.1:p.Arg313=	XP_016877751.1:p.Arg313Trp
P protein isoform X27	XP_016877754.1:p.Arg313=	XP_016877754.1:p.Arg313Trp
P protein isoform X5	XP_016877747.1:p.Arg313=	XP_016877747.1:p.Arg313Trp
P protein isoform X20	XP_016877753.1:p.Arg313=	XP_016877753.1:p.Arg313Trp
P protein isoform X1	XP_016877744.1:p.Arg313=	XP_016877744.1:p.Arg313Trp
P protein isoform X14	XP_016877750.1:p.Arg248=	XP_016877750.1:p.Arg248Trp
P protein isoform X13	XP_047288566.1:p.Arg313=	XP_047288566.1:p.Arg313Trp
P protein isoform X23	XP_047288572.1:p.Arg313=	XP_047288572.1:p.Arg313Trp
P protein isoform X22	XP_047288571.1:p.Arg313=	XP_047288571.1:p.Arg313Trp
P protein isoform X10	XP_047288563.1:p.Arg313=	XP_047288563.1:p.Arg313Trp
P protein isoform X6	XP_047288561.1:p.Arg305=	XP_047288561.1:p.Arg305Trp
P protein isoform X11	XP_047288564.1:p.Arg305=	XP_047288564.1:p.Arg305Trp
P protein isoform X16	XP_047288567.1:p.Arg305=	XP_047288567.1:p.Arg305Trp
P protein isoform X19	XP_047288569.1:p.Arg305=	XP_047288569.1:p.Arg305Trp
P protein isoform X18	XP_047288568.1:p.Arg305=	XP_047288568.1:p.Arg305Trp
P protein isoform X24	XP_047288573.1:p.Arg305=	XP_047288573.1:p.Arg305Trp
P protein isoform X7	XP_047288562.1:p.Arg305=	XP_047288562.1:p.Arg305Trp
P protein isoform X12	XP_047288565.1:p.Arg305=	XP_047288565.1:p.Arg305Trp
P protein isoform X21	XP_047288570.1:p.Arg305=	XP_047288570.1:p.Arg305Trp
P protein isoform X25	XP_047288574.1:p.Arg305=	XP_047288574.1:p.Arg305Trp
P protein isoform X26	XP_047288575.1:p.Arg305=	XP_047288575.1:p.Arg305Trp

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#.

120 SubSNP, 26 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2420486	Nov 14, 2000 (89)
2	SEQUENOM	ss24796484	Sep 20, 2004 (126)
3	ABI	ss43700360	Mar 10, 2006 (126)
4	SNP500CANCER	ss48296092	Mar 10, 2006 (126)
5	APPLERA_GI	ss48429573	Mar 10, 2006 (126)
6	ILLUMINA-UK	ss118171787	Feb 14, 2009 (130)
7	SEATTLESEQ	ss159730252	Dec 01, 2009 (131)
8	ILLUMINA	ss160462818	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss168984422	Jul 04, 2010 (132)
10	1000GENOMES	ss211585548	Jul 14, 2010 (132)
11	1000GENOMES	ss226812963	Jul 14, 2010 (132)
12	1000GENOMES	ss236722500	Jul 15, 2010 (132)
13	BL	ss254861980	May 09, 2011 (134)
14	OMIM-CURATED-RECORDS	ss275517645	Dec 03, 2010 (133)
15	NHLBI-ESP	ss342398411	May 09, 2011 (134)
16	ILLUMINA	ss481067062	Sep 08, 2015 (146)
17	ILLUMINA	ss483157919	May 04, 2012 (137)
18	ILLUMINA	ss483376166	May 04, 2012 (137)
19	1000GENOMES	ss491078390	May 04, 2012 (137)
20	EXOME_CHIP	ss491491349	May 04, 2012 (137)
21	CLINSEQ_SNP	ss491696442	May 04, 2012 (137)
22	ILLUMINA	ss536992289	Sep 08, 2015 (146)
23	TISHKOFF	ss564383379	Apr 25, 2013 (138)
24	SSMP	ss660095458	Apr 25, 2013 (138)
25	ILLUMINA	ss778697556	Sep 08, 2015 (146)
26	ILLUMINA	ss780172694	Sep 08, 2015 (146)
27	ILLUMINA	ss780706119	Sep 08, 2015 (146)
28	ILLUMINA	ss782022284	Sep 08, 2015 (146)
29	ILLUMINA	ss783380683	Sep 08, 2015 (146)
30	ILLUMINA	ss834156411	Sep 08, 2015 (146)
31	ILLUMINA	ss835656704	Sep 08, 2015 (146)
32	EVA-GONL	ss991623996	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1067550302	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss1080003039	Aug 21, 2014 (142)
35	1000GENOMES	ss1352819869	Aug 21, 2014 (142)
36	HAMMER_LAB	ss1397692495	Sep 08, 2015 (146)
37	DDI	ss1427575818	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1577522787	Apr 01, 2015 (144)
39	EVA_FINRISK	ss1584092712	Apr 01, 2015 (144)
40	EVA_UK10K_ALSPAC	ss1632670471	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1675664504	Apr 01, 2015 (144)
42	EVA_EXAC	ss1691717319	Apr 01, 2015 (144)
43	EVA_DECODE	ss1695635590	Apr 01, 2015 (144)
44	EVA_MGP	ss1711390094	Apr 01, 2015 (144)
45	ILLUMINA	ss1752154432	Sep 08, 2015 (146)
46	HAMMER_LAB	ss1808131169	Sep 08, 2015 (146)
47	ILLUMINA	ss1917893699	Feb 12, 2016 (147)
48	WEILL_CORNELL_DGM	ss1935021049	Feb 12, 2016 (147)
49	ILLUMINA	ss1946388484	Feb 12, 2016 (147)
50	ILLUMINA	ss1959597454	Feb 12, 2016 (147)
51	ILLUMINA	ss1959597456	Feb 12, 2016 (147)
52	JJLAB	ss2028290863	Sep 14, 2016 (149)
53	USC_VALOUEV	ss2156687851	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2205525611	Dec 20, 2016 (150)
55	SYSTEMSBIOZJU	ss2628638593	Nov 08, 2017 (151)
56	ILLUMINA	ss2633208666	Nov 08, 2017 (151)
57	ILLUMINA	ss2633208667	Nov 08, 2017 (151)
58	ILLUMINA	ss2635056516	Nov 08, 2017 (151)
59	GRF	ss2701146879	Nov 08, 2017 (151)
60	GNOMAD	ss2741066138	Nov 08, 2017 (151)
61	GNOMAD	ss2749249637	Nov 08, 2017 (151)
62	GNOMAD	ss2932982942	Nov 08, 2017 (151)
63	AFFY	ss2985035058	Nov 08, 2017 (151)
64	SWEGEN	ss3013005537	Nov 08, 2017 (151)
65	ILLUMINA	ss3021616198	Nov 08, 2017 (151)
66	ILLUMINA	ss3021616199	Nov 08, 2017 (151)
67	BIOINF_KMB_FNS_UNIBA	ss3027969681	Nov 08, 2017 (151)
68	CSHL	ss3351041841	Nov 08, 2017 (151)
69	ILLUMINA	ss3627323282	Oct 12, 2018 (152)
70	ILLUMINA	ss3627323283	Oct 12, 2018 (152)
71	ILLUMINA	ss3631202991	Oct 12, 2018 (152)
72	ILLUMINA	ss3631202992	Oct 12, 2018 (152)
73	ILLUMINA	ss3634597945	Oct 12, 2018 (152)
74	ILLUMINA	ss3636288181	Oct 12, 2018 (152)
75	ILLUMINA	ss3640305272	Oct 12, 2018 (152)
76	ILLUMINA	ss3641904489	Oct 12, 2018 (152)
77	ILLUMINA	ss3644641607	Oct 12, 2018 (152)
78	OMUKHERJEE_ADBS	ss3646469614	Oct 12, 2018 (152)
79	ILLUMINA	ss3652015535	Oct 12, 2018 (152)
80	ILLUMINA	ss3652015536	Oct 12, 2018 (152)
81	ILLUMINA	ss3653806776	Oct 12, 2018 (152)
82	EGCUT_WGS	ss3680177052	Jul 13, 2019 (153)
83	EVA_DECODE	ss3697583883	Jul 13, 2019 (153)
84	ILLUMINA	ss3725484714	Jul 13, 2019 (153)
85	ACPOP	ss3740786962	Jul 13, 2019 (153)
86	ILLUMINA	ss3744417197	Jul 13, 2019 (153)
87	ILLUMINA	ss3744898511	Jul 13, 2019 (153)
88	EVA	ss3752890928	Jul 13, 2019 (153)
89	PAGE_CC	ss3771818439	Jul 13, 2019 (153)
90	ILLUMINA	ss3772397227	Jul 13, 2019 (153)
91	KHV_HUMAN_GENOMES	ss3818208179	Jul 13, 2019 (153)
92	EVA	ss3824896996	Apr 27, 2020 (154)
93	EVA	ss3825854742	Apr 27, 2020 (154)
94	EVA	ss3834156518	Apr 27, 2020 (154)
95	SGDP_PRJ	ss3882551342	Apr 27, 2020 (154)
96	KRGDB	ss3931675234	Apr 27, 2020 (154)
97	FSA-LAB	ss3984068255	Apr 26, 2021 (155)
98	EVA	ss3984698642	Apr 26, 2021 (155)
99	EVA	ss3985707013	Apr 26, 2021 (155)
100	EVA	ss3986639150	Apr 26, 2021 (155)
101	VINODS	ss4031999128	Apr 26, 2021 (155)
102	TOPMED	ss4985708111	Apr 26, 2021 (155)
103	TOMMO_GENOMICS	ss5215403499	Apr 26, 2021 (155)
104	EVA	ss5236921798	Apr 26, 2021 (155)
105	EVA	ss5237228913	Apr 26, 2021 (155)
106	EVA	ss5237663530	Oct 16, 2022 (156)
107	1000G_HIGH_COVERAGE	ss5297859158	Oct 16, 2022 (156)
108	TRAN_CS_UWATERLOO	ss5314440398	Oct 16, 2022 (156)
109	EVA	ss5315771853	Oct 16, 2022 (156)
110	EVA	ss5418193028	Oct 16, 2022 (156)
111	HUGCELL_USP	ss5491675527	Oct 16, 2022 (156)
112	1000G_HIGH_COVERAGE	ss5598969944	Oct 16, 2022 (156)
113	SANFORD_IMAGENETICS	ss5657174785	Oct 16, 2022 (156)
114	TOMMO_GENOMICS	ss5768978040	Oct 16, 2022 (156)
115	EVA	ss5799404158	Oct 16, 2022 (156)
116	EVA	ss5827982939	Oct 16, 2022 (156)
117	EVA	ss5847736157	Oct 16, 2022 (156)
118	EVA	ss5848396496	Oct 16, 2022 (156)
119	EVA	ss5875248731	Oct 16, 2022 (156)
120	EVA	ss5948585290	Oct 16, 2022 (156)
121	1000Genomes	NC_000015.9 - 28260053	Oct 12, 2018 (152)
122	1000Genomes_30x	NC_000015.10 - 28014907	Oct 16, 2022 (156)
123	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 28260053	Oct 12, 2018 (152)
124	Genome-wide autozygosity in Daghestan	NC_000015.8 - 25933648	Apr 27, 2020 (154)
125	Genetic variation in the Estonian population	NC_000015.9 - 28260053	Oct 12, 2018 (152)
126	ExAC	NC_000015.9 - 28260053	Oct 12, 2018 (152)
127	FINRISK	NC_000015.9 - 28260053	Apr 27, 2020 (154)
128	The Danish reference pan genome	NC_000015.9 - 28260053	Apr 27, 2020 (154)
129	gnomAD - Genomes	NC_000015.10 - 28014907	Apr 26, 2021 (155)
130	gnomAD - Exomes	NC_000015.9 - 28260053	Jul 13, 2019 (153)
131	Genome of the Netherlands Release 5	NC_000015.9 - 28260053	Apr 27, 2020 (154)
132	KOREAN population from KRGDB	NC_000015.9 - 28260053	Apr 27, 2020 (154)
133	Medical Genome Project healthy controls from Spanish population	NC_000015.9 - 28260053	Apr 27, 2020 (154)
134	Northern Sweden	NC_000015.9 - 28260053	Jul 13, 2019 (153)
135	The PAGE Study	NC_000015.10 - 28014907	Jul 13, 2019 (153)
136	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 28260053	Apr 26, 2021 (155)
137	CNV burdens in cranial meningiomas	NC_000015.9 - 28260053	Apr 26, 2021 (155)
138	Qatari	NC_000015.9 - 28260053	Apr 27, 2020 (154)
139	SGDP_PRJ	NC_000015.9 - 28260053	Apr 27, 2020 (154)
140	Siberian	NC_000015.9 - 28260053	Apr 27, 2020 (154)
141	8.3KJPN	NC_000015.9 - 28260053	Apr 26, 2021 (155)
142	14KJPN	NC_000015.10 - 28014907	Oct 16, 2022 (156)
143	TopMed	NC_000015.10 - 28014907	Apr 26, 2021 (155)
144	UK 10K study - Twins	NC_000015.9 - 28260053	Oct 12, 2018 (152)
145	A Vietnamese Genetic Variation Database	NC_000015.9 - 28260053	Jul 13, 2019 (153)
146	ALFA	NC_000015.10 - 28014907	Apr 26, 2021 (155)
147	ClinVar	RCV000001013.5	Oct 12, 2018 (152)
148	ClinVar	RCV000180482.4	Oct 16, 2022 (156)
149	ClinVar	RCV000312067.5	Oct 16, 2022 (156)
150	ClinVar	RCV001522992.6	Oct 16, 2022 (156)

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)
rs17359372	Mar 10, 2006 (126)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
162717, ss118171787, ss168984422, ss211585548, ss254861980, ss483376166, ss491696442, ss1397692495, ss1695635590, ss2635056516	NC_000015.8:25933647:G:A	NC_000015.10:28014906:G:A	(self)
65866947, 36574472, 25915300, 2082091, 89173, 3792522, 10329472, 16337932, 38852628, 505854, 14071827, 932940, 248163, 17062979, 34568322, 9204205, 73372806, 36574472, 8137733, ss226812963, ss236722500, ss342398411, ss481067062, ss483157919, ss491078390, ss491491349, ss536992289, ss564383379, ss660095458, ss778697556, ss780172694, ss780706119, ss782022284, ss783380683, ss834156411, ss835656704, ss991623996, ss1067550302, ss1080003039, ss1352819869, ss1427575818, ss1577522787, ss1584092712, ss1632670471, ss1675664504, ss1691717319, ss1711390094, ss1752154432, ss1808131169, ss1917893699, ss1935021049, ss1946388484, ss1959597454, ss1959597456, ss2028290863, ss2156687851, ss2628638593, ss2633208666, ss2633208667, ss2701146879, ss2741066138, ss2749249637, ss2932982942, ss2985035058, ss3013005537, ss3021616198, ss3021616199, ss3351041841, ss3627323282, ss3627323283, ss3631202991, ss3631202992, ss3634597945, ss3636288181, ss3640305272, ss3641904489, ss3644641607, ss3646469614, ss3652015535, ss3652015536, ss3653806776, ss3680177052, ss3740786962, ss3744417197, ss3744898511, ss3752890928, ss3772397227, ss3824896996, ss3825854742, ss3834156518, ss3882551342, ss3931675234, ss3984068255, ss3984698642, ss3985707013, ss3986639150, ss5215403499, ss5315771853, ss5418193028, ss5657174785, ss5799404158, ss5827982939, ss5847736157, ss5848396496, ss5948585290	NC_000015.9:28260052:G:A	NC_000015.10:28014906:G:A	(self)
RCV000001013.5, RCV000180482.4, RCV000312067.5, RCV001522992.6, 86495879, 464266805, 1039908, 102815144, 201253771, 9837112838, ss275517645, ss2205525611, ss3027969681, ss3697583883, ss3725484714, ss3771818439, ss3818208179, ss4985708111, ss5236921798, ss5237228913, ss5237663530, ss5297859158, ss5314440398, ss5491675527, ss5598969944, ss5768978040, ss5875248731	NC_000015.10:28014906:G:A	NC_000015.10:28014906:G:A	(self)
ss2420486, ss24796484, ss43700360, ss48296092, ss48429573, ss159730252, ss160462818	NT_026446.14:4695199:G:A	NC_000015.10:28014906:G:A	(self)
ss4031999128	NT_187660.1:149206:G:A	NC_000015.10:28014906:G:A	(self)

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

15 citations for rs1800401

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
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
19384953	Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.	Nan H et al.	2009	International journal of cancer
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
21197618	Model-based prediction of human hair color using DNA variants.	Branicki W et al.	2011	Human genetics
21541274	Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.	Preising MN et al.	2011	Molecular vision
24809478	Implications of the admixture process in skin color molecular assessment.	Cerqueira CC et al.	2014	PloS one
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
27468418	Importance of nonsynonymous OCA2 variants in human eye color prediction.	Andersen JD et al.	2016	Molecular genetics & genomic medicine
28242083	Association of five SNPs with human hair colour in the Polish population.	Siewierska-Górska A et al.	2017	Homo
32963319	The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.	Kidd KK et al.	2020	Scientific reports
34071952	Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set.	Meyer OS et al.	2021	Genes

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1800401