Name: rs8036718
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.

rs8036718

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:27808411 (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>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.247837 (65600/264690, TOPMED)
A=0.335588 (62624/186610, ALFA)
A=0.278154 (38986/140160, GnomAD) (+ 19 more)
A=0.00039 (11/28258, 14KJPN)
A=0.00042 (7/16760, 8.3KJPN)
A=0.1543 (988/6404, 1000G_30x)
A=0.1506 (754/5008, 1000G)
A=0.4623 (2071/4480, Estonian)
A=0.3876 (1494/3854, ALSPAC)
A=0.3811 (1413/3708, TWINSUK)
A=0.0017 (5/2928, KOREAN)
A=0.1236 (257/2080, HGDP_Stanford)
A=0.0000 (0/1832, Korea1K)
A=0.1537 (252/1640, HapMap)
A=0.426 (425/998, GoNL)
A=0.438 (263/600, NorthernSweden)
A=0.096 (52/542, SGDP_PRJ)
A=0.125 (27/216, Qatari)
A=0.000 (0/212, Vietnamese)
A=0.11 (10/90, Ancient Sardinia)
A=0.15 (8/54, Siberian)
A=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: OCA2 : Intron Variant
Publications: 0 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	186610	A=0.335588	G=0.664412
European	Sub	164326	A=0.355622	G=0.644378
African	Sub	7062	A=0.1399	G=0.8601
African Others	Sub	264	A=0.102	G=0.898
African American	Sub	6798	A=0.1414	G=0.8586
Asian	Sub	700	A=0.006	G=0.994
East Asian	Sub	554	A=0.005	G=0.995
Other Asian	Sub	146	A=0.007	G=0.993
Latin American 1	Sub	778	A=0.252	G=0.748
Latin American 2	Sub	2824	A=0.2057	G=0.7943
South Asian	Sub	5042	A=0.1341	G=0.8659
Other	Sub	5878	A=0.2962	G=0.7038

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	A=0.247837	G=0.752163
Allele Frequency Aggregator	Total	Global	186610	A=0.335588	G=0.664412
Allele Frequency Aggregator	European	Sub	164326	A=0.355622	G=0.644378
Allele Frequency Aggregator	African	Sub	7062	A=0.1399	G=0.8601
Allele Frequency Aggregator	Other	Sub	5878	A=0.2962	G=0.7038
Allele Frequency Aggregator	South Asian	Sub	5042	A=0.1341	G=0.8659
Allele Frequency Aggregator	Latin American 2	Sub	2824	A=0.2057	G=0.7943
Allele Frequency Aggregator	Latin American 1	Sub	778	A=0.252	G=0.748
Allele Frequency Aggregator	Asian	Sub	700	A=0.006	G=0.994
gnomAD - Genomes	Global	Study-wide	140160	A=0.278154	G=0.721846
gnomAD - Genomes	European	Sub	75872	A=0.38564	G=0.61436
gnomAD - Genomes	African	Sub	42032	A=0.13414	G=0.86586
gnomAD - Genomes	American	Sub	13644	A=0.20449	G=0.79551
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.2377	G=0.7623
gnomAD - Genomes	East Asian	Sub	3134	A=0.0010	G=0.9990
gnomAD - Genomes	Other	Sub	2154	A=0.2349	G=0.7651
14KJPN	JAPANESE	Study-wide	28258	A=0.00039	G=0.99961
8.3KJPN	JAPANESE	Study-wide	16760	A=0.00042	G=0.99958
1000Genomes_30x	Global	Study-wide	6404	A=0.1543	G=0.8457
1000Genomes_30x	African	Sub	1786	A=0.1165	G=0.8835
1000Genomes_30x	Europe	Sub	1266	A=0.3460	G=0.6540
1000Genomes_30x	South Asian	Sub	1202	A=0.1040	G=0.8960
1000Genomes_30x	East Asian	Sub	1170	A=0.0026	G=0.9974
1000Genomes_30x	American	Sub	980	A=0.218	G=0.782
1000Genomes	Global	Study-wide	5008	A=0.1506	G=0.8494
1000Genomes	African	Sub	1322	A=0.1172	G=0.8828
1000Genomes	East Asian	Sub	1008	A=0.0030	G=0.9970
1000Genomes	Europe	Sub	1006	A=0.3499	G=0.6501
1000Genomes	South Asian	Sub	978	A=0.100	G=0.900
1000Genomes	American	Sub	694	A=0.210	G=0.790
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4623	G=0.5377
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.3876	G=0.6124
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.3811	G=0.6189
KOREAN population from KRGDB	KOREAN	Study-wide	2928	A=0.0017	C=0.0000, G=0.9983, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2080	A=0.1236	G=0.8764
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.009	G=0.991
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.193	G=0.807
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	A=0.144	G=0.856
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.237	G=0.762
HGDP-CEPH-db Supplement 1	Africa	Sub	240	A=0.083	G=0.917
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.125	G=0.875
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.00	G=1.00
Korean Genome Project	KOREAN	Study-wide	1832	A=0.0000	G=1.0000
HapMap	Global	Study-wide	1640	A=0.1537	G=0.8463
HapMap	African	Sub	692	A=0.097	G=0.903
HapMap	American	Sub	600	A=0.220	G=0.780
HapMap	Europe	Sub	176	A=0.295	G=0.705
HapMap	Asian	Sub	172	A=0.006	G=0.994
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.426	G=0.574
Northern Sweden	ACPOP	Study-wide	600	A=0.438	G=0.562
SGDP_PRJ	Global	Study-wide	542	A=0.096	G=0.904
Qatari	Global	Study-wide	216	A=0.125	G=0.875
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.000	G=1.000
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	90	A=0.11	G=0.89
Siberian	Global	Study-wide	54	A=0.15	G=0.85
The Danish reference pan genome	Danish	Study-wide	40	A=0.38	G=0.62

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.27808411A>C
GRCh38.p14 chr 15	NC_000015.10:g.27808411A>G
GRCh38.p14 chr 15	NC_000015.10:g.27808411A>T
GRCh37.p13 chr 15	NC_000015.9:g.28053557A>C
GRCh37.p13 chr 15	NC_000015.9:g.28053557A>G
GRCh37.p13 chr 15	NC_000015.9:g.28053557A>T
OCA2 RefSeqGene	NG_009846.1:g.295902T>G
OCA2 RefSeqGene	NG_009846.1:g.295902T>C
OCA2 RefSeqGene	NG_009846.1:g.295902T>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.2432+36548T… NM_000275.3:c.2432+36548T>G	N/A	Intron Variant
OCA2 transcript variant 2	NM_001300984.2:c.2360+365… NM_001300984.2:c.2360+36548T>G	N/A	Intron Variant
OCA2 transcript variant X2	XM_011521640.3:c.2474+365… XM_011521640.3:c.2474+36548T>G	N/A	Intron Variant
OCA2 transcript variant X1	XM_017022255.2:c.2498+365… XM_017022255.2:c.2498+36548T>G	N/A	Intron Variant
OCA2 transcript variant X3	XM_017022256.2:c.2456+365… XM_017022256.2:c.2456+36548T>G	N/A	Intron Variant
OCA2 transcript variant X4	XM_017022257.2:c.2426+365… XM_017022257.2:c.2426+36548T>G	N/A	Intron Variant
OCA2 transcript variant X5	XM_017022258.2:c.2456+365… XM_017022258.2:c.2456+36548T>G	N/A	Intron Variant
OCA2 transcript variant X8	XM_017022259.2:c.2384+365… XM_017022259.2:c.2384+36548T>G	N/A	Intron Variant
OCA2 transcript variant X9	XM_017022260.2:c.2360+365… XM_017022260.2:c.2360+36548T>G	N/A	Intron Variant
OCA2 transcript variant X14	XM_017022261.2:c.2303+365… XM_017022261.2:c.2303+36548T>G	N/A	Intron Variant
OCA2 transcript variant X15	XM_017022262.2:c.2269-529… XM_017022262.2:c.2269-52939T>G	N/A	Intron Variant
OCA2 transcript variant X17	XM_017022263.2:c.2291+365… XM_017022263.2:c.2291+36548T>G	N/A	Intron Variant
OCA2 transcript variant X20	XM_017022264.2:c.2291+365… XM_017022264.2:c.2291+36548T>G	N/A	Intron Variant
OCA2 transcript variant X6	XM_047432605.1:c.2402+365… XM_047432605.1:c.2402+36548T>G	N/A	Intron Variant
OCA2 transcript variant X7	XM_047432606.1:c.2432+365… XM_047432606.1:c.2432+36548T>G	N/A	Intron Variant
OCA2 transcript variant X10	XM_047432607.1:c.2384+365… XM_047432607.1:c.2384+36548T>G	N/A	Intron Variant
OCA2 transcript variant X11	XM_047432608.1:c.2336+365… XM_047432608.1:c.2336+36548T>G	N/A	Intron Variant
OCA2 transcript variant X12	XM_047432609.1:c.2360+365… XM_047432609.1:c.2360+36548T>G	N/A	Intron Variant
OCA2 transcript variant X13	XM_047432610.1:c.2318+365… XM_047432610.1:c.2318+36548T>G	N/A	Intron Variant
OCA2 transcript variant X16	XM_047432611.1:c.2294+365… XM_047432611.1:c.2294+36548T>G	N/A	Intron Variant
OCA2 transcript variant X18	XM_047432612.1:c.2245-529… XM_047432612.1:c.2245-52939T>G	N/A	Intron Variant
OCA2 transcript variant X19	XM_047432613.1:c.2267+365… XM_047432613.1:c.2267+36548T>G	N/A	Intron Variant
OCA2 transcript variant X21	XM_047432614.1:c.2267+365… XM_047432614.1:c.2267+36548T>G	N/A	Intron Variant
OCA2 transcript variant X22	XM_047432615.1:c.2197-529… XM_047432615.1:c.2197-52939T>G	N/A	Intron Variant
OCA2 transcript variant X23	XM_047432616.1:c.2219+365… XM_047432616.1:c.2219+36548T>G	N/A	Intron Variant
OCA2 transcript variant X24	XM_047432617.1:c.2195+365… XM_047432617.1:c.2195+36548T>G	N/A	Intron Variant
OCA2 transcript variant X25	XM_047432618.1:c.2195+365… XM_047432618.1:c.2195+36548T>G	N/A	Intron Variant
OCA2 transcript variant X26	XM_047432619.1:c.2129+365… XM_047432619.1:c.2129+36548T>G	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=	C	G	T
GRCh38.p14 chr 15	NC_000015.10:g.27808411=	NC_000015.10:g.27808411A>C	NC_000015.10:g.27808411A>G	NC_000015.10:g.27808411A>T
GRCh37.p13 chr 15	NC_000015.9:g.28053557=	NC_000015.9:g.28053557A>C	NC_000015.9:g.28053557A>G	NC_000015.9:g.28053557A>T
OCA2 RefSeqGene	NG_009846.1:g.295902=	NG_009846.1:g.295902T>G	NG_009846.1:g.295902T>C	NG_009846.1:g.295902T>A
OCA2 transcript variant 1	NM_000275.2:c.2432+36548=	NM_000275.2:c.2432+36548T>G	NM_000275.2:c.2432+36548T>C	NM_000275.2:c.2432+36548T>A
OCA2 transcript variant 1	NM_000275.3:c.2432+36548=	NM_000275.3:c.2432+36548T>G	NM_000275.3:c.2432+36548T>C	NM_000275.3:c.2432+36548T>A
OCA2 transcript variant 2	NM_001300984.2:c.2360+36548=	NM_001300984.2:c.2360+36548T>G	NM_001300984.2:c.2360+36548T>C	NM_001300984.2:c.2360+36548T>A
OCA2 transcript variant X1	XM_005268259.1:c.2360+36548=	XM_005268259.1:c.2360+36548T>G	XM_005268259.1:c.2360+36548T>C	XM_005268259.1:c.2360+36548T>A
OCA2 transcript variant X2	XM_011521640.3:c.2474+36548=	XM_011521640.3:c.2474+36548T>G	XM_011521640.3:c.2474+36548T>C	XM_011521640.3:c.2474+36548T>A
OCA2 transcript variant X1	XM_017022255.2:c.2498+36548=	XM_017022255.2:c.2498+36548T>G	XM_017022255.2:c.2498+36548T>C	XM_017022255.2:c.2498+36548T>A
OCA2 transcript variant X3	XM_017022256.2:c.2456+36548=	XM_017022256.2:c.2456+36548T>G	XM_017022256.2:c.2456+36548T>C	XM_017022256.2:c.2456+36548T>A
OCA2 transcript variant X4	XM_017022257.2:c.2426+36548=	XM_017022257.2:c.2426+36548T>G	XM_017022257.2:c.2426+36548T>C	XM_017022257.2:c.2426+36548T>A
OCA2 transcript variant X5	XM_017022258.2:c.2456+36548=	XM_017022258.2:c.2456+36548T>G	XM_017022258.2:c.2456+36548T>C	XM_017022258.2:c.2456+36548T>A
OCA2 transcript variant X8	XM_017022259.2:c.2384+36548=	XM_017022259.2:c.2384+36548T>G	XM_017022259.2:c.2384+36548T>C	XM_017022259.2:c.2384+36548T>A
OCA2 transcript variant X9	XM_017022260.2:c.2360+36548=	XM_017022260.2:c.2360+36548T>G	XM_017022260.2:c.2360+36548T>C	XM_017022260.2:c.2360+36548T>A
OCA2 transcript variant X14	XM_017022261.2:c.2303+36548=	XM_017022261.2:c.2303+36548T>G	XM_017022261.2:c.2303+36548T>C	XM_017022261.2:c.2303+36548T>A
OCA2 transcript variant X15	XM_017022262.2:c.2269-52939=	XM_017022262.2:c.2269-52939T>G	XM_017022262.2:c.2269-52939T>C	XM_017022262.2:c.2269-52939T>A
OCA2 transcript variant X17	XM_017022263.2:c.2291+36548=	XM_017022263.2:c.2291+36548T>G	XM_017022263.2:c.2291+36548T>C	XM_017022263.2:c.2291+36548T>A
OCA2 transcript variant X20	XM_017022264.2:c.2291+36548=	XM_017022264.2:c.2291+36548T>G	XM_017022264.2:c.2291+36548T>C	XM_017022264.2:c.2291+36548T>A
OCA2 transcript variant X6	XM_047432605.1:c.2402+36548=	XM_047432605.1:c.2402+36548T>G	XM_047432605.1:c.2402+36548T>C	XM_047432605.1:c.2402+36548T>A
OCA2 transcript variant X7	XM_047432606.1:c.2432+36548=	XM_047432606.1:c.2432+36548T>G	XM_047432606.1:c.2432+36548T>C	XM_047432606.1:c.2432+36548T>A
OCA2 transcript variant X10	XM_047432607.1:c.2384+36548=	XM_047432607.1:c.2384+36548T>G	XM_047432607.1:c.2384+36548T>C	XM_047432607.1:c.2384+36548T>A
OCA2 transcript variant X11	XM_047432608.1:c.2336+36548=	XM_047432608.1:c.2336+36548T>G	XM_047432608.1:c.2336+36548T>C	XM_047432608.1:c.2336+36548T>A
OCA2 transcript variant X12	XM_047432609.1:c.2360+36548=	XM_047432609.1:c.2360+36548T>G	XM_047432609.1:c.2360+36548T>C	XM_047432609.1:c.2360+36548T>A
OCA2 transcript variant X13	XM_047432610.1:c.2318+36548=	XM_047432610.1:c.2318+36548T>G	XM_047432610.1:c.2318+36548T>C	XM_047432610.1:c.2318+36548T>A
OCA2 transcript variant X16	XM_047432611.1:c.2294+36548=	XM_047432611.1:c.2294+36548T>G	XM_047432611.1:c.2294+36548T>C	XM_047432611.1:c.2294+36548T>A
OCA2 transcript variant X18	XM_047432612.1:c.2245-52939=	XM_047432612.1:c.2245-52939T>G	XM_047432612.1:c.2245-52939T>C	XM_047432612.1:c.2245-52939T>A
OCA2 transcript variant X19	XM_047432613.1:c.2267+36548=	XM_047432613.1:c.2267+36548T>G	XM_047432613.1:c.2267+36548T>C	XM_047432613.1:c.2267+36548T>A
OCA2 transcript variant X21	XM_047432614.1:c.2267+36548=	XM_047432614.1:c.2267+36548T>G	XM_047432614.1:c.2267+36548T>C	XM_047432614.1:c.2267+36548T>A
OCA2 transcript variant X22	XM_047432615.1:c.2197-52939=	XM_047432615.1:c.2197-52939T>G	XM_047432615.1:c.2197-52939T>C	XM_047432615.1:c.2197-52939T>A
OCA2 transcript variant X23	XM_047432616.1:c.2219+36548=	XM_047432616.1:c.2219+36548T>G	XM_047432616.1:c.2219+36548T>C	XM_047432616.1:c.2219+36548T>A
OCA2 transcript variant X24	XM_047432617.1:c.2195+36548=	XM_047432617.1:c.2195+36548T>G	XM_047432617.1:c.2195+36548T>C	XM_047432617.1:c.2195+36548T>A
OCA2 transcript variant X25	XM_047432618.1:c.2195+36548=	XM_047432618.1:c.2195+36548T>G	XM_047432618.1:c.2195+36548T>C	XM_047432618.1:c.2195+36548T>A
OCA2 transcript variant X26	XM_047432619.1:c.2129+36548=	XM_047432619.1:c.2129+36548T>G	XM_047432619.1:c.2129+36548T>C	XM_047432619.1:c.2129+36548T>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#.

119 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12333156	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss14390955	Dec 05, 2003 (119)
3	ILLUMINA	ss67863386	Dec 02, 2006 (127)
4	ILLUMINA	ss68011450	Dec 02, 2006 (127)
5	ILLUMINA	ss68293845	Dec 12, 2006 (127)
6	ILLUMINA	ss70966281	May 24, 2008 (130)
7	ILLUMINA	ss71576046	May 18, 2007 (127)
8	ILLUMINA	ss75735328	Dec 07, 2007 (129)
9	HGSV	ss81852381	Dec 15, 2007 (130)
10	KRIBB_YJKIM	ss84774071	Dec 15, 2007 (130)
11	BCMHGSC_JDW	ss90103317	Mar 24, 2008 (129)
12	HUMANGENOME_JCVI	ss96799705	Feb 04, 2009 (130)
13	BGI	ss106418735	Feb 04, 2009 (130)
14	1000GENOMES	ss108694168	Jan 23, 2009 (130)
15	1000GENOMES	ss113951225	Jan 25, 2009 (130)
16	ILLUMINA-UK	ss118171126	Feb 14, 2009 (130)
17	ENSEMBL	ss134209463	Dec 01, 2009 (131)
18	ENSEMBL	ss143613076	Dec 01, 2009 (131)
19	ILLUMINA	ss154464671	Dec 01, 2009 (131)
20	GMI	ss156356981	Dec 01, 2009 (131)
21	ILLUMINA	ss159639233	Dec 01, 2009 (131)
22	ILLUMINA	ss160942500	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss168980490	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss170881577	Jul 04, 2010 (132)
25	ILLUMINA	ss174683580	Jul 04, 2010 (132)
26	BUSHMAN	ss200651021	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss207310268	Jul 04, 2010 (132)
28	1000GENOMES	ss226811922	Jul 14, 2010 (132)
29	1000GENOMES	ss236721866	Jul 15, 2010 (132)
30	1000GENOMES	ss243120037	Jul 15, 2010 (132)
31	BL	ss254860105	May 09, 2011 (134)
32	GMI	ss282192110	May 04, 2012 (137)
33	GMI	ss286924295	Apr 25, 2013 (138)
34	PJP	ss291807897	May 09, 2011 (134)
35	ILLUMINA	ss481792825	May 04, 2012 (137)
36	ILLUMINA	ss482756068	Sep 08, 2015 (146)
37	ILLUMINA	ss537547119	Sep 08, 2015 (146)
38	TISHKOFF	ss564382171	Apr 25, 2013 (138)
39	SSMP	ss660094360	Apr 25, 2013 (138)
40	ILLUMINA	ss778713794	Sep 08, 2015 (146)
41	ILLUMINA	ss784236062	Sep 08, 2015 (146)
42	ILLUMINA	ss832544295	Sep 08, 2015 (146)
43	ILLUMINA	ss833150090	Jul 13, 2019 (153)
44	ILLUMINA	ss834173002	Sep 08, 2015 (146)
45	EVA-GONL	ss991622523	Aug 21, 2014 (142)
46	JMKIDD_LAB	ss1080001611	Aug 21, 2014 (142)
47	1000GENOMES	ss1352813859	Aug 21, 2014 (142)
48	DDI	ss1427575267	Apr 01, 2015 (144)
49	EVA_GENOME_DK	ss1577521832	Apr 01, 2015 (144)
50	EVA_UK10K_ALSPAC	ss1632667321	Apr 01, 2015 (144)
51	EVA_UK10K_TWINSUK	ss1675661354	Apr 01, 2015 (144)
52	EVA_DECODE	ss1695634009	Apr 01, 2015 (144)
53	EVA_SVP	ss1713477486	Apr 01, 2015 (144)
54	ILLUMINA	ss1752154342	Sep 08, 2015 (146)
55	HAMMER_LAB	ss1808130147	Sep 08, 2015 (146)
56	WEILL_CORNELL_DGM	ss1935019667	Feb 12, 2016 (147)
57	GENOMED	ss1968070207	Jul 19, 2016 (147)
58	JJLAB	ss2028290019	Sep 14, 2016 (149)
59	USC_VALOUEV	ss2156686988	Dec 20, 2016 (150)
60	HUMAN_LONGEVITY	ss2205513484	Dec 20, 2016 (150)
61	SYSTEMSBIOZJU	ss2628638019	Nov 08, 2017 (151)
62	ILLUMINA	ss2633208445	Nov 08, 2017 (151)
63	GRF	ss2701145948	Nov 08, 2017 (151)
64	GNOMAD	ss2932966912	Nov 08, 2017 (151)
65	SWEGEN	ss3013003397	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3027969181	Nov 08, 2017 (151)
67	CSHL	ss3351041075	Nov 08, 2017 (151)
68	ILLUMINA	ss3627322913	Oct 12, 2018 (152)
69	ILLUMINA	ss3631202771	Oct 12, 2018 (152)
70	ILLUMINA	ss3633091573	Oct 12, 2018 (152)
71	ILLUMINA	ss3633795922	Oct 12, 2018 (152)
72	ILLUMINA	ss3634597854	Oct 12, 2018 (152)
73	ILLUMINA	ss3635484997	Oct 12, 2018 (152)
74	ILLUMINA	ss3636288105	Oct 12, 2018 (152)
75	ILLUMINA	ss3637236226	Oct 12, 2018 (152)
76	ILLUMINA	ss3638075793	Oct 12, 2018 (152)
77	ILLUMINA	ss3639051314	Oct 12, 2018 (152)
78	ILLUMINA	ss3639834977	Oct 12, 2018 (152)
79	ILLUMINA	ss3640305181	Oct 12, 2018 (152)
80	ILLUMINA	ss3641353086	Oct 12, 2018 (152)
81	ILLUMINA	ss3643060510	Oct 12, 2018 (152)
82	ILLUMINA	ss3643885223	Oct 12, 2018 (152)
83	URBANLAB	ss3650316773	Oct 12, 2018 (152)
84	EGCUT_WGS	ss3680174750	Jul 13, 2019 (153)
85	EVA_DECODE	ss3697581062	Jul 13, 2019 (153)
86	ACPOP	ss3740785728	Jul 13, 2019 (153)
87	ILLUMINA	ss3744898420	Jul 13, 2019 (153)
88	EVA	ss3752889122	Jul 13, 2019 (153)
89	ILLUMINA	ss3772397137	Jul 13, 2019 (153)
90	PACBIO	ss3787800492	Jul 13, 2019 (153)
91	PACBIO	ss3792819806	Jul 13, 2019 (153)
92	PACBIO	ss3797704266	Jul 13, 2019 (153)
93	KHV_HUMAN_GENOMES	ss3818206382	Jul 13, 2019 (153)
94	EVA	ss3834155612	Apr 27, 2020 (154)
95	EVA	ss3840674583	Apr 27, 2020 (154)
96	EVA	ss3846163344	Apr 27, 2020 (154)
97	HGDP	ss3847518139	Apr 27, 2020 (154)
98	SGDP_PRJ	ss3882548013	Apr 27, 2020 (154)
99	KRGDB	ss3931672129	Apr 27, 2020 (154)
100	KOGIC	ss3975851876	Apr 27, 2020 (154)
101	EVA	ss3985706626	Apr 26, 2021 (155)
102	EVA	ss4017693020	Apr 26, 2021 (155)
103	TOPMED	ss4985659042	Apr 26, 2021 (155)
104	TOMMO_GENOMICS	ss5215397163	Apr 26, 2021 (155)
105	1000G_HIGH_COVERAGE	ss5297853982	Oct 17, 2022 (156)
106	EVA	ss5315771705	Oct 17, 2022 (156)
107	EVA	ss5418183294	Oct 17, 2022 (156)
108	HUGCELL_USP	ss5491670672	Oct 17, 2022 (156)
109	EVA	ss5511381998	Oct 17, 2022 (156)
110	1000G_HIGH_COVERAGE	ss5598962164	Oct 17, 2022 (156)
111	SANFORD_IMAGENETICS	ss5657171491	Oct 17, 2022 (156)
112	TOMMO_GENOMICS	ss5768969997	Oct 17, 2022 (156)
113	EVA	ss5799932987	Oct 17, 2022 (156)
114	YY_MCH	ss5815186886	Oct 17, 2022 (156)
115	EVA	ss5827980773	Oct 17, 2022 (156)
116	EVA	ss5851226772	Oct 17, 2022 (156)
117	EVA	ss5875242672	Oct 17, 2022 (156)
118	EVA	ss5948582099	Oct 17, 2022 (156)
119	EVA	ss5980859040	Oct 17, 2022 (156)
120	1000Genomes	NC_000015.9 - 28053557	Oct 12, 2018 (152)
121	1000Genomes_30x	NC_000015.10 - 27808411	Oct 17, 2022 (156)
122	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 28053557	Oct 12, 2018 (152)
123	Genetic variation in the Estonian population	NC_000015.9 - 28053557	Oct 12, 2018 (152)
124	The Danish reference pan genome	NC_000015.9 - 28053557	Apr 27, 2020 (154)
125	gnomAD - Genomes	NC_000015.10 - 27808411	Apr 26, 2021 (155)
126	Genome of the Netherlands Release 5	NC_000015.9 - 28053557	Apr 27, 2020 (154)
127	HGDP-CEPH-db Supplement 1	NC_000015.8 - 25727152	Apr 27, 2020 (154)
128	HapMap	NC_000015.10 - 27808411	Apr 27, 2020 (154)
129	KOREAN population from KRGDB	NC_000015.9 - 28053557	Apr 27, 2020 (154)
130	Korean Genome Project	NC_000015.10 - 27808411	Apr 27, 2020 (154)
131	Northern Sweden	NC_000015.9 - 28053557	Jul 13, 2019 (153)
132	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 28053557	Apr 26, 2021 (155)
133	Qatari	NC_000015.9 - 28053557	Apr 27, 2020 (154)
134	SGDP_PRJ	NC_000015.9 - 28053557	Apr 27, 2020 (154)
135	Siberian	NC_000015.9 - 28053557	Apr 27, 2020 (154)
136	8.3KJPN	NC_000015.9 - 28053557	Apr 26, 2021 (155)
137	14KJPN	NC_000015.10 - 27808411	Oct 17, 2022 (156)
138	TopMed	NC_000015.10 - 27808411	Apr 26, 2021 (155)
139	UK 10K study - Twins	NC_000015.9 - 28053557	Oct 12, 2018 (152)
140	A Vietnamese Genetic Variation Database	NC_000015.9 - 28053557	Jul 13, 2019 (153)
141	ALFA	NC_000015.10 - 27808411	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)
rs58223475	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
38849523, ss3931672129	NC_000015.9:28053556:A:C	NC_000015.10:27808410:A:C	(self)
196031, ss81852381, ss90103317, ss108694168, ss113951225, ss118171126, ss168980490, ss170881577, ss200651021, ss207310268, ss254860105, ss282192110, ss286924295, ss291807897, ss1695634009, ss1713477486, ss3639051314, ss3639834977, ss3643060510, ss3643885223, ss3847518139	NC_000015.8:25727151:A:G	NC_000015.10:27808410:A:G	(self)
65860758, 36571008, 25912998, 3791838, 16336479, 38849523, 14070593, 932553, 17061597, 34564993, 9203342, 73366470, 36571008, 8137000, ss226811922, ss236721866, ss243120037, ss481792825, ss482756068, ss537547119, ss564382171, ss660094360, ss778713794, ss784236062, ss832544295, ss833150090, ss834173002, ss991622523, ss1080001611, ss1352813859, ss1427575267, ss1577521832, ss1632667321, ss1675661354, ss1752154342, ss1808130147, ss1935019667, ss1968070207, ss2028290019, ss2156686988, ss2628638019, ss2633208445, ss2701145948, ss2932966912, ss3013003397, ss3351041075, ss3627322913, ss3631202771, ss3633091573, ss3633795922, ss3634597854, ss3635484997, ss3636288105, ss3637236226, ss3638075793, ss3640305181, ss3641353086, ss3680174750, ss3740785728, ss3744898420, ss3752889122, ss3772397137, ss3787800492, ss3792819806, ss3797704266, ss3834155612, ss3840674583, ss3882548013, ss3931672129, ss3985706626, ss4017693020, ss5215397163, ss5315771705, ss5418183294, ss5511381998, ss5657171491, ss5799932987, ss5827980773, ss5948582099, ss5980859040	NC_000015.9:28053556:A:G	NC_000015.10:27808410:A:G	(self)
86488099, 464225985, 1232151, 32229877, 102807101, 201204702, 15259865653, ss2205513484, ss3027969181, ss3650316773, ss3697581062, ss3818206382, ss3846163344, ss3975851876, ss4985659042, ss5297853982, ss5491670672, ss5598962164, ss5768969997, ss5815186886, ss5851226772, ss5875242672	NC_000015.10:27808410:A:G	NC_000015.10:27808410:A:G	(self)
ss12333156	NT_010280.15:419047:A:G	NC_000015.10:27808410:A:G	(self)
ss14390955	NT_010280.16:419047:A:G	NC_000015.10:27808410:A:G	(self)
ss67863386, ss68011450, ss68293845, ss70966281, ss71576046, ss75735328, ss84774071, ss96799705, ss106418735, ss134209463, ss143613076, ss154464671, ss156356981, ss159639233, ss160942500, ss174683580	NT_026446.14:4488703:A:G	NC_000015.10:27808410:A:G	(self)
38849523, ss3931672129	NC_000015.9:28053556:A:T	NC_000015.10:27808410:A:T	(self)

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

No publications for rs8036718

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

rs8036718