Name: rs1470608
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.

rs1470608

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:28042975 (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 / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.425271 (112565/264690, TOPMED)
T=0.204002 (41836/205076, GENOGRAPHIC)
T=0.211012 (32435/153712, ALFA) (+ 21 more)
T=0.389662 (54548/139988, GnomAD)
G=0.36882 (29027/78702, PAGE_STUDY)
G=0.09803 (2770/28258, 14KJPN)
G=0.09946 (1667/16760, 8.3KJPN)
G=0.4121 (2639/6404, 1000G_30x)
G=0.4123 (2065/5008, 1000G)
T=0.1210 (542/4480, Estonian)
T=0.1334 (514/3854, ALSPAC)
T=0.1276 (473/3708, TWINSUK)
G=0.1102 (323/2930, KOREAN)
G=0.4237 (883/2084, HGDP_Stanford)
G=0.3281 (584/1780, HapMap)
T=0.126 (126/998, GoNL)
G=0.103 (81/790, PRJEB37584)
T=0.140 (84/600, NorthernSweden)
G=0.206 (87/422, SGDP_PRJ)
T=0.495 (107/216, Qatari)
G=0.104 (22/212, Vietnamese)
T=0.10 (4/40, GENOME_DK)
G=0.35 (12/34, Siberian)
T=0.29 (4/14, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: OCA2 : Intron Variant
Publications: 4 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	153712	G=0.788988	T=0.211012
European	Sub	132088	G=0.837601	T=0.162399
African	Sub	6734	G=0.1616	T=0.8384
African Others	Sub	246	G=0.024	T=0.976
African American	Sub	6488	G=0.1668	T=0.8332
Asian	Sub	472	G=0.138	T=0.862
East Asian	Sub	360	G=0.114	T=0.886
Other Asian	Sub	112	G=0.214	T=0.786
Latin American 1	Sub	718	G=0.630	T=0.370
Latin American 2	Sub	2560	G=0.6781	T=0.3219
South Asian	Sub	5014	G=0.6117	T=0.3883
Other	Sub	6126	G=0.6908	T=0.3092

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=0.574729	T=0.425271
Genographic Project	Global	Study-wide	205076	G=0.795998	T=0.204002
Allele Frequency Aggregator	Total	Global	153712	G=0.788988	T=0.211012
Allele Frequency Aggregator	European	Sub	132088	G=0.837601	T=0.162399
Allele Frequency Aggregator	African	Sub	6734	G=0.1616	T=0.8384
Allele Frequency Aggregator	Other	Sub	6126	G=0.6908	T=0.3092
Allele Frequency Aggregator	South Asian	Sub	5014	G=0.6117	T=0.3883
Allele Frequency Aggregator	Latin American 2	Sub	2560	G=0.6781	T=0.3219
Allele Frequency Aggregator	Latin American 1	Sub	718	G=0.630	T=0.370
Allele Frequency Aggregator	Asian	Sub	472	G=0.138	T=0.862
gnomAD - Genomes	Global	Study-wide	139988	G=0.610338	T=0.389662
gnomAD - Genomes	European	Sub	75830	G=0.85661	T=0.14339
gnomAD - Genomes	African	Sub	41952	G=0.17270	T=0.82730
gnomAD - Genomes	American	Sub	13606	G=0.65750	T=0.34250
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.7913	T=0.2087
gnomAD - Genomes	East Asian	Sub	3130	G=0.1137	T=0.8863
gnomAD - Genomes	Other	Sub	2150	G=0.6088	T=0.3912
The PAGE Study	Global	Study-wide	78702	G=0.36882	T=0.63118
The PAGE Study	AfricanAmerican	Sub	32516	G=0.18815	T=0.81185
The PAGE Study	Mexican	Sub	10810	G=0.67086	T=0.32914
The PAGE Study	Asian	Sub	8318	G=0.1074	T=0.8926
The PAGE Study	PuertoRican	Sub	7918	G=0.6071	T=0.3929
The PAGE Study	NativeHawaiian	Sub	4534	G=0.2686	T=0.7314
The PAGE Study	Cuban	Sub	4230	G=0.6437	T=0.3563
The PAGE Study	Dominican	Sub	3828	G=0.4577	T=0.5423
The PAGE Study	CentralAmerican	Sub	2450	G=0.6094	T=0.3906
The PAGE Study	SouthAmerican	Sub	1982	G=0.6852	T=0.3148
The PAGE Study	NativeAmerican	Sub	1260	G=0.7000	T=0.3000
The PAGE Study	SouthAsian	Sub	856	G=0.620	T=0.380
14KJPN	JAPANESE	Study-wide	28258	G=0.09803	T=0.90197
8.3KJPN	JAPANESE	Study-wide	16760	G=0.09946	T=0.90054
1000Genomes_30x	Global	Study-wide	6404	G=0.4121	T=0.5879
1000Genomes_30x	African	Sub	1786	G=0.0482	T=0.9518
1000Genomes_30x	Europe	Sub	1266	G=0.8318	T=0.1682
1000Genomes_30x	South Asian	Sub	1202	G=0.5857	T=0.4143
1000Genomes_30x	East Asian	Sub	1170	G=0.1179	T=0.8821
1000Genomes_30x	American	Sub	980	G=0.671	T=0.329
1000Genomes	Global	Study-wide	5008	G=0.4123	T=0.5877
1000Genomes	African	Sub	1322	G=0.0514	T=0.9486
1000Genomes	East Asian	Sub	1008	G=0.1171	T=0.8829
1000Genomes	Europe	Sub	1006	G=0.8310	T=0.1690
1000Genomes	South Asian	Sub	978	G=0.588	T=0.412
1000Genomes	American	Sub	694	G=0.674	T=0.326
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8790	T=0.1210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8666	T=0.1334
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8724	T=0.1276
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.1102	A=0.0000, C=0.0000, T=0.8898
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.4237	T=0.5763
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.085	T=0.915
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.551	T=0.449
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.549	T=0.451
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.766	T=0.234
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.079	T=0.921
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.690	T=0.310
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.14	T=0.86
HapMap	Global	Study-wide	1780	G=0.3281	T=0.6719
HapMap	American	Sub	766	G=0.497	T=0.503
HapMap	African	Sub	586	G=0.070	T=0.930
HapMap	Asian	Sub	252	G=0.111	T=0.889
HapMap	Europe	Sub	176	G=0.761	T=0.239
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.874	T=0.126
CNV burdens in cranial meningiomas	Global	Study-wide	790	G=0.103	T=0.897
CNV burdens in cranial meningiomas	CRM	Sub	790	G=0.103	T=0.897
Northern Sweden	ACPOP	Study-wide	600	G=0.860	T=0.140
SGDP_PRJ	Global	Study-wide	422	G=0.206	T=0.794
Qatari	Global	Study-wide	216	G=0.505	T=0.495
A Vietnamese Genetic Variation Database	Global	Study-wide	212	G=0.104	T=0.896
The Danish reference pan genome	Danish	Study-wide	40	G=0.90	T=0.10
Siberian	Global	Study-wide	34	G=0.35	T=0.65
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	14	G=0.71	T=0.29

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.28042975G>A
GRCh38.p14 chr 15	NC_000015.10:g.28042975G>C
GRCh38.p14 chr 15	NC_000015.10:g.28042975G>T
GRCh37.p13 chr 15	NC_000015.9:g.28288121G>A
GRCh37.p13 chr 15	NC_000015.9:g.28288121G>C
GRCh37.p13 chr 15	NC_000015.9:g.28288121G>T
OCA2 RefSeqGene	NG_009846.1:g.61338C>T
OCA2 RefSeqGene	NG_009846.1:g.61338C>G
OCA2 RefSeqGene	NG_009846.1:g.61338C>A
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.177273G>A
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.177273G>C
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.177273G>T
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.177273G>A
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.177273G>C
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.177273G>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.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant 2	NM_001300984.2:c.228-1081… NM_001300984.2:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X2	XM_011521640.3:c.228-1081… XM_011521640.3:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X1	XM_017022255.2:c.252-1081… XM_017022255.2:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X3	XM_017022256.2:c.252-1081… XM_017022256.2:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X4	XM_017022257.2:c.252-1081… XM_017022257.2:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X5	XM_017022258.2:c.252-1081… XM_017022258.2:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X8	XM_017022259.2:c.252-1081… XM_017022259.2:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X9	XM_017022260.2:c.252-1081… XM_017022260.2:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X14	XM_017022261.2:c.57-10812… XM_017022261.2:c.57-10812C>T	N/A	Intron Variant
OCA2 transcript variant X15	XM_017022262.2:c.252-1081… XM_017022262.2:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X17	XM_017022263.2:c.252-1081… XM_017022263.2:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X20	XM_017022264.2:c.252-1081… XM_017022264.2:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X27	XM_017022265.2:c.252-1081… XM_017022265.2:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X6	XM_047432605.1:c.228-1081… XM_047432605.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X7	XM_047432606.1:c.228-1081… XM_047432606.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X10	XM_047432607.1:c.252-1081… XM_047432607.1:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X11	XM_047432608.1:c.228-1081… XM_047432608.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X12	XM_047432609.1:c.228-1081… XM_047432609.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X13	XM_047432610.1:c.252-1081… XM_047432610.1:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X16	XM_047432611.1:c.228-1081… XM_047432611.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X18	XM_047432612.1:c.228-1081… XM_047432612.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X19	XM_047432613.1:c.228-1081… XM_047432613.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X21	XM_047432614.1:c.228-1081… XM_047432614.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X22	XM_047432615.1:c.252-1081… XM_047432615.1:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X23	XM_047432616.1:c.252-1081… XM_047432616.1:c.252-10812C>T	N/A	Intron Variant
OCA2 transcript variant X24	XM_047432617.1:c.228-1081… XM_047432617.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X25	XM_047432618.1:c.228-1081… XM_047432618.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X26	XM_047432619.1:c.228-1081… XM_047432619.1:c.228-10812C>T	N/A	Intron Variant
OCA2 transcript variant X28	XR_001751294.2:n.	N/A	Intron 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	G=	A	C	T
GRCh38.p14 chr 15	NC_000015.10:g.28042975=	NC_000015.10:g.28042975G>A	NC_000015.10:g.28042975G>C	NC_000015.10:g.28042975G>T
GRCh37.p13 chr 15	NC_000015.9:g.28288121=	NC_000015.9:g.28288121G>A	NC_000015.9:g.28288121G>C	NC_000015.9:g.28288121G>T
OCA2 RefSeqGene	NG_009846.1:g.61338=	NG_009846.1:g.61338C>T	NG_009846.1:g.61338C>G	NG_009846.1:g.61338C>A
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.177273=	NW_011332701.1:g.177273G>A	NW_011332701.1:g.177273G>C	NW_011332701.1:g.177273G>T
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.177273=	NT_187660.1:g.177273G>A	NT_187660.1:g.177273G>C	NT_187660.1:g.177273G>T
OCA2 transcript variant 1	NM_000275.2:c.228-10812=	NM_000275.2:c.228-10812C>T	NM_000275.2:c.228-10812C>G	NM_000275.2:c.228-10812C>A
OCA2 transcript variant 1	NM_000275.3:c.228-10812=	NM_000275.3:c.228-10812C>T	NM_000275.3:c.228-10812C>G	NM_000275.3:c.228-10812C>A
OCA2 transcript variant 2	NM_001300984.2:c.228-10812=	NM_001300984.2:c.228-10812C>T	NM_001300984.2:c.228-10812C>G	NM_001300984.2:c.228-10812C>A
OCA2 transcript variant X1	XM_005268259.1:c.228-10812=	XM_005268259.1:c.228-10812C>T	XM_005268259.1:c.228-10812C>G	XM_005268259.1:c.228-10812C>A
OCA2 transcript variant X2	XM_011521640.3:c.228-10812=	XM_011521640.3:c.228-10812C>T	XM_011521640.3:c.228-10812C>G	XM_011521640.3:c.228-10812C>A
OCA2 transcript variant X1	XM_017022255.2:c.252-10812=	XM_017022255.2:c.252-10812C>T	XM_017022255.2:c.252-10812C>G	XM_017022255.2:c.252-10812C>A
OCA2 transcript variant X3	XM_017022256.2:c.252-10812=	XM_017022256.2:c.252-10812C>T	XM_017022256.2:c.252-10812C>G	XM_017022256.2:c.252-10812C>A
OCA2 transcript variant X4	XM_017022257.2:c.252-10812=	XM_017022257.2:c.252-10812C>T	XM_017022257.2:c.252-10812C>G	XM_017022257.2:c.252-10812C>A
OCA2 transcript variant X5	XM_017022258.2:c.252-10812=	XM_017022258.2:c.252-10812C>T	XM_017022258.2:c.252-10812C>G	XM_017022258.2:c.252-10812C>A
OCA2 transcript variant X8	XM_017022259.2:c.252-10812=	XM_017022259.2:c.252-10812C>T	XM_017022259.2:c.252-10812C>G	XM_017022259.2:c.252-10812C>A
OCA2 transcript variant X9	XM_017022260.2:c.252-10812=	XM_017022260.2:c.252-10812C>T	XM_017022260.2:c.252-10812C>G	XM_017022260.2:c.252-10812C>A
OCA2 transcript variant X14	XM_017022261.2:c.57-10812=	XM_017022261.2:c.57-10812C>T	XM_017022261.2:c.57-10812C>G	XM_017022261.2:c.57-10812C>A
OCA2 transcript variant X15	XM_017022262.2:c.252-10812=	XM_017022262.2:c.252-10812C>T	XM_017022262.2:c.252-10812C>G	XM_017022262.2:c.252-10812C>A
OCA2 transcript variant X17	XM_017022263.2:c.252-10812=	XM_017022263.2:c.252-10812C>T	XM_017022263.2:c.252-10812C>G	XM_017022263.2:c.252-10812C>A
OCA2 transcript variant X20	XM_017022264.2:c.252-10812=	XM_017022264.2:c.252-10812C>T	XM_017022264.2:c.252-10812C>G	XM_017022264.2:c.252-10812C>A
OCA2 transcript variant X27	XM_017022265.2:c.252-10812=	XM_017022265.2:c.252-10812C>T	XM_017022265.2:c.252-10812C>G	XM_017022265.2:c.252-10812C>A
OCA2 transcript variant X6	XM_047432605.1:c.228-10812=	XM_047432605.1:c.228-10812C>T	XM_047432605.1:c.228-10812C>G	XM_047432605.1:c.228-10812C>A
OCA2 transcript variant X7	XM_047432606.1:c.228-10812=	XM_047432606.1:c.228-10812C>T	XM_047432606.1:c.228-10812C>G	XM_047432606.1:c.228-10812C>A
OCA2 transcript variant X10	XM_047432607.1:c.252-10812=	XM_047432607.1:c.252-10812C>T	XM_047432607.1:c.252-10812C>G	XM_047432607.1:c.252-10812C>A
OCA2 transcript variant X11	XM_047432608.1:c.228-10812=	XM_047432608.1:c.228-10812C>T	XM_047432608.1:c.228-10812C>G	XM_047432608.1:c.228-10812C>A
OCA2 transcript variant X12	XM_047432609.1:c.228-10812=	XM_047432609.1:c.228-10812C>T	XM_047432609.1:c.228-10812C>G	XM_047432609.1:c.228-10812C>A
OCA2 transcript variant X13	XM_047432610.1:c.252-10812=	XM_047432610.1:c.252-10812C>T	XM_047432610.1:c.252-10812C>G	XM_047432610.1:c.252-10812C>A
OCA2 transcript variant X16	XM_047432611.1:c.228-10812=	XM_047432611.1:c.228-10812C>T	XM_047432611.1:c.228-10812C>G	XM_047432611.1:c.228-10812C>A
OCA2 transcript variant X18	XM_047432612.1:c.228-10812=	XM_047432612.1:c.228-10812C>T	XM_047432612.1:c.228-10812C>G	XM_047432612.1:c.228-10812C>A
OCA2 transcript variant X19	XM_047432613.1:c.228-10812=	XM_047432613.1:c.228-10812C>T	XM_047432613.1:c.228-10812C>G	XM_047432613.1:c.228-10812C>A
OCA2 transcript variant X21	XM_047432614.1:c.228-10812=	XM_047432614.1:c.228-10812C>T	XM_047432614.1:c.228-10812C>G	XM_047432614.1:c.228-10812C>A
OCA2 transcript variant X22	XM_047432615.1:c.252-10812=	XM_047432615.1:c.252-10812C>T	XM_047432615.1:c.252-10812C>G	XM_047432615.1:c.252-10812C>A
OCA2 transcript variant X23	XM_047432616.1:c.252-10812=	XM_047432616.1:c.252-10812C>T	XM_047432616.1:c.252-10812C>G	XM_047432616.1:c.252-10812C>A
OCA2 transcript variant X24	XM_047432617.1:c.228-10812=	XM_047432617.1:c.228-10812C>T	XM_047432617.1:c.228-10812C>G	XM_047432617.1:c.228-10812C>A
OCA2 transcript variant X25	XM_047432618.1:c.228-10812=	XM_047432618.1:c.228-10812C>T	XM_047432618.1:c.228-10812C>G	XM_047432618.1:c.228-10812C>A
OCA2 transcript variant X26	XM_047432619.1:c.228-10812=	XM_047432619.1:c.228-10812C>T	XM_047432619.1:c.228-10812C>G	XM_047432619.1:c.228-10812C>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#.

116 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2291419	Oct 23, 2000 (88)
2	ABI	ss43770581	Mar 13, 2006 (126)
3	ILLUMINA	ss67112164	Dec 01, 2006 (127)
4	ILLUMINA	ss67449141	Dec 01, 2006 (127)
5	ILLUMINA	ss68156123	Dec 12, 2006 (127)
6	ILLUMINA	ss70621951	May 24, 2008 (130)
7	ILLUMINA	ss71170758	May 18, 2007 (127)
8	ILLUMINA	ss75830998	Dec 06, 2007 (129)
9	HGSV	ss80660069	Dec 14, 2007 (130)
10	KRIBB_YJKIM	ss83789902	Dec 14, 2007 (130)
11	HGSV	ss86167422	Dec 14, 2007 (130)
12	BGI	ss106418886	Feb 04, 2009 (130)
13	1000GENOMES	ss113953461	Jan 25, 2009 (130)
14	ILLUMINA-UK	ss118171845	Feb 14, 2009 (130)
15	ILLUMINA	ss153457428	Dec 01, 2009 (131)
16	GMI	ss156360195	Dec 01, 2009 (131)
17	ILLUMINA	ss159273893	Dec 01, 2009 (131)
18	ILLUMINA	ss160358435	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss168984925	Jul 04, 2010 (132)
20	ILLUMINA	ss172526825	Jul 04, 2010 (132)
21	BUSHMAN	ss200653976	Jul 04, 2010 (132)
22	1000GENOMES	ss226813067	Jul 14, 2010 (132)
23	1000GENOMES	ss236722559	Jul 15, 2010 (132)
24	1000GENOMES	ss243120556	Jul 15, 2010 (132)
25	GMI	ss282192836	May 04, 2012 (137)
26	PJP	ss291808273	May 09, 2011 (134)
27	ILLUMINA	ss479990138	May 04, 2012 (137)
28	ILLUMINA	ss479998813	May 04, 2012 (137)
29	ILLUMINA	ss480651458	Sep 08, 2015 (146)
30	ILLUMINA	ss484793204	May 04, 2012 (137)
31	ILLUMINA	ss536877405	Sep 08, 2015 (146)
32	TISHKOFF	ss564383474	Apr 25, 2013 (138)
33	SSMP	ss660095577	Apr 25, 2013 (138)
34	ILLUMINA	ss778808421	Aug 21, 2014 (142)
35	ILLUMINA	ss782843259	Aug 21, 2014 (142)
36	ILLUMINA	ss783807900	Aug 21, 2014 (142)
37	ILLUMINA	ss832097016	Apr 01, 2015 (144)
38	ILLUMINA	ss832786056	Aug 21, 2014 (142)
39	ILLUMINA	ss833376886	Aug 21, 2014 (142)
40	ILLUMINA	ss834268660	Aug 21, 2014 (142)
41	EVA-GONL	ss991624170	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1080003189	Aug 21, 2014 (142)
43	1000GENOMES	ss1352820642	Aug 21, 2014 (142)
44	EVA_GENOME_DK	ss1577522849	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1632670871	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1675664904	Apr 01, 2015 (144)
47	EVA_DECODE	ss1695635784	Apr 01, 2015 (144)
48	EVA_SVP	ss1713477626	Apr 01, 2015 (144)
49	ILLUMINA	ss1752154449	Sep 08, 2015 (146)
50	HAMMER_LAB	ss1808131246	Sep 08, 2015 (146)
51	WEILL_CORNELL_DGM	ss1935021204	Feb 12, 2016 (147)
52	ILLUMINA	ss1946388497	Feb 12, 2016 (147)
53	ILLUMINA	ss1959597484	Feb 12, 2016 (147)
54	GENOMED	ss1968070723	Jul 19, 2016 (147)
55	JJLAB	ss2028290930	Sep 14, 2016 (149)
56	ILLUMINA	ss2095057515	Dec 20, 2016 (150)
57	USC_VALOUEV	ss2156687928	Dec 20, 2016 (150)
58	HUMAN_LONGEVITY	ss2205527275	Dec 20, 2016 (150)
59	SYSTEMSBIOZJU	ss2628638637	Nov 08, 2017 (151)
60	ILLUMINA	ss2633208697	Nov 08, 2017 (151)
61	GRF	ss2701146954	Nov 08, 2017 (151)
62	ILLUMINA	ss2710811771	Nov 08, 2017 (151)
63	GNOMAD	ss2932985004	Nov 08, 2017 (151)
64	SWEGEN	ss3013005796	Nov 08, 2017 (151)
65	ILLUMINA	ss3021616233	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3027969718	Nov 08, 2017 (151)
67	CSHL	ss3351041917	Nov 08, 2017 (151)
68	ILLUMINA	ss3625669079	Oct 12, 2018 (152)
69	ILLUMINA	ss3627323337	Oct 12, 2018 (152)
70	ILLUMINA	ss3631203020	Oct 12, 2018 (152)
71	ILLUMINA	ss3633091638	Oct 12, 2018 (152)
72	ILLUMINA	ss3633795989	Oct 12, 2018 (152)
73	ILLUMINA	ss3634597962	Oct 12, 2018 (152)
74	ILLUMINA	ss3635485061	Oct 12, 2018 (152)
75	ILLUMINA	ss3636288194	Oct 12, 2018 (152)
76	ILLUMINA	ss3637236292	Oct 12, 2018 (152)
77	ILLUMINA	ss3638075893	Oct 12, 2018 (152)
78	ILLUMINA	ss3640305289	Oct 12, 2018 (152)
79	ILLUMINA	ss3641057864	Oct 12, 2018 (152)
80	ILLUMINA	ss3641353130	Oct 12, 2018 (152)
81	ILLUMINA	ss3652015573	Oct 12, 2018 (152)
82	EGCUT_WGS	ss3680177364	Jul 13, 2019 (153)
83	EVA_DECODE	ss3697584226	Jul 13, 2019 (153)
84	ILLUMINA	ss3725484747	Jul 13, 2019 (153)
85	ACPOP	ss3740787086	Jul 13, 2019 (153)
86	EVA	ss3752891147	Jul 13, 2019 (153)
87	PAGE_CC	ss3771818465	Jul 13, 2019 (153)
88	KHV_HUMAN_GENOMES	ss3818208371	Jul 13, 2019 (153)
89	EVA	ss3834156616	Apr 27, 2020 (154)
90	HGDP	ss3847518211	Apr 27, 2020 (154)
91	SGDP_PRJ	ss3882551710	Apr 27, 2020 (154)
92	KRGDB	ss3931675636	Apr 27, 2020 (154)
93	EVA	ss3984698647	Apr 26, 2021 (155)
94	EVA	ss3985707053	Apr 26, 2021 (155)
95	EVA	ss4017693113	Apr 26, 2021 (155)
96	VINODS	ss4031999187	Apr 26, 2021 (155)
97	TOPMED	ss4985714864	Apr 26, 2021 (155)
98	TOMMO_GENOMICS	ss5215404266	Apr 26, 2021 (155)
99	1000G_HIGH_COVERAGE	ss5297859782	Oct 16, 2022 (156)
100	GENOGRAPHIC	ss5314563541	Oct 16, 2022 (156)
101	EVA	ss5315771868	Oct 16, 2022 (156)
102	HUGCELL_USP	ss5491676137	Oct 16, 2022 (156)
103	EVA	ss5511382683	Oct 16, 2022 (156)
104	1000G_HIGH_COVERAGE	ss5598970935	Oct 16, 2022 (156)
105	SANFORD_IMAGENETICS	ss5624356226	Oct 16, 2022 (156)
106	SANFORD_IMAGENETICS	ss5657175168	Oct 16, 2022 (156)
107	TOMMO_GENOMICS	ss5768979047	Oct 16, 2022 (156)
108	EVA	ss5799933042	Oct 16, 2022 (156)
109	YY_MCH	ss5815188252	Oct 16, 2022 (156)
110	EVA	ss5827983202	Oct 16, 2022 (156)
111	EVA	ss5847445856	Oct 16, 2022 (156)
112	EVA	ss5847736176	Oct 16, 2022 (156)
113	EVA	ss5851227666	Oct 16, 2022 (156)
114	EVA	ss5875249506	Oct 16, 2022 (156)
115	EVA	ss5948585680	Oct 16, 2022 (156)
116	EVA	ss5979455524	Oct 16, 2022 (156)
117	1000Genomes	NC_000015.9 - 28288121	Oct 12, 2018 (152)
118	1000Genomes_30x	NC_000015.10 - 28042975	Oct 16, 2022 (156)
119	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 28288121	Oct 12, 2018 (152)
120	Genetic variation in the Estonian population	NC_000015.9 - 28288121	Oct 12, 2018 (152)
121	Genographic Project	NC_000015.10 - 28042975	Oct 16, 2022 (156)
122	The Danish reference pan genome	NC_000015.9 - 28288121	Apr 27, 2020 (154)
123	gnomAD - Genomes	NC_000015.10 - 28042975	Apr 26, 2021 (155)
124	Genome of the Netherlands Release 5	NC_000015.9 - 28288121	Apr 27, 2020 (154)
125	HGDP-CEPH-db Supplement 1	NC_000015.8 - 25961716	Apr 27, 2020 (154)
126	HapMap	NC_000015.10 - 28042975	Apr 27, 2020 (154)
127	KOREAN population from KRGDB	NC_000015.9 - 28288121	Apr 27, 2020 (154)
128	Northern Sweden	NC_000015.9 - 28288121	Jul 13, 2019 (153)
129	The PAGE Study	NC_000015.10 - 28042975	Jul 13, 2019 (153)
130	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 28288121	Apr 26, 2021 (155)
131	CNV burdens in cranial meningiomas	NC_000015.9 - 28288121	Apr 26, 2021 (155)
132	Qatari	NC_000015.9 - 28288121	Apr 27, 2020 (154)
133	SGDP_PRJ	NC_000015.9 - 28288121	Apr 27, 2020 (154)
134	Siberian	NC_000015.9 - 28288121	Apr 27, 2020 (154)
135	8.3KJPN	NC_000015.9 - 28288121	Apr 26, 2021 (155)
136	14KJPN	NC_000015.10 - 28042975	Oct 16, 2022 (156)
137	TopMed	NC_000015.10 - 28042975	Apr 26, 2021 (155)
138	UK 10K study - Twins	NC_000015.9 - 28288121	Oct 12, 2018 (152)
139	A Vietnamese Genetic Variation Database	NC_000015.9 - 28288121	Jul 13, 2019 (153)
140	ALFA	NC_000015.10 - 28042975	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).

Associated ID	History Updated (Build)
rs57808705	May 24, 2008 (130)
rs386533340	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
38853030, ss3931675636	NC_000015.9:28288120:G:A	NC_000015.10:28042974:G:A	(self)
38853030, ss3931675636	NC_000015.9:28288120:G:C	NC_000015.10:28042974:G:C	(self)
196103, ss80660069, ss86167422, ss113953461, ss118171845, ss168984925, ss200653976, ss282192836, ss291808273, ss479990138, ss1695635784, ss1713477626, ss3847518211	NC_000015.8:25961715:G:T	NC_000015.10:28042974:G:T	(self)
65867747, 36574901, 25915612, 3792580, 16338102, 38853030, 14071951, 932980, 248168, 17063134, 34568690, 9204282, 73373573, 36574901, 8137830, ss226813067, ss236722559, ss243120556, ss479998813, ss480651458, ss484793204, ss536877405, ss564383474, ss660095577, ss778808421, ss782843259, ss783807900, ss832097016, ss832786056, ss833376886, ss834268660, ss991624170, ss1080003189, ss1352820642, ss1577522849, ss1632670871, ss1675664904, ss1752154449, ss1808131246, ss1935021204, ss1946388497, ss1959597484, ss1968070723, ss2028290930, ss2095057515, ss2156687928, ss2628638637, ss2633208697, ss2701146954, ss2710811771, ss2932985004, ss3013005796, ss3021616233, ss3351041917, ss3625669079, ss3627323337, ss3631203020, ss3633091638, ss3633795989, ss3634597962, ss3635485061, ss3636288194, ss3637236292, ss3638075893, ss3640305289, ss3641057864, ss3641353130, ss3652015573, ss3680177364, ss3740787086, ss3752891147, ss3834156616, ss3882551710, ss3931675636, ss3984698647, ss3985707053, ss4017693113, ss5215404266, ss5315771868, ss5511382683, ss5624356226, ss5657175168, ss5799933042, ss5827983202, ss5847445856, ss5847736176, ss5948585680, ss5979455524	NC_000015.9:28288120:G:T	NC_000015.10:28042974:G:T	(self)
86496870, 2892, 464272062, 1232574, 1039934, 102816151, 201260524, 8601117806, ss2205527275, ss3027969718, ss3697584226, ss3725484747, ss3771818465, ss3818208371, ss4985714864, ss5297859782, ss5314563541, ss5491676137, ss5598970935, ss5768979047, ss5815188252, ss5851227666, ss5875249506	NC_000015.10:28042974:G:T	NC_000015.10:28042974:G:T	(self)
ss2291419, ss43770581, ss67112164, ss67449141, ss68156123, ss70621951, ss71170758, ss75830998, ss83789902, ss106418886, ss153457428, ss156360195, ss159273893, ss160358435, ss172526825	NT_026446.14:4723267:G:T	NC_000015.10:28042974:G:T	(self)
ss4031999187	NT_187660.1:177272:G:T	NC_000015.10:28042974:G:T	(self)

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

4 citations for rs1470608

PMID	Title	Author	Year	Journal
20042077	Genetic determinants of hair and eye colours in the Scottish and Danish populations.	Mengel-From J et al.	2009	BMC genetics
20585627	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eriksson N et al.	2010	PLoS genetics
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
32966289	Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.	Rayner JE et al.	2020	PloS one

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).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1470608