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dbSNP Short Genetic Variations

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.

rs763361

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr18:69864406 (GRCh38.p12) 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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.490327 (89921/183390, ALFA Project)
C=0.464012 (58265/125568, TOPMED)
C=0.43055 (33884/78700, PAGE_STUDY) (+ 20 more)
C=0.48365 (15146/31316, GnomAD)
C=0.45210 (5880/13006, GO-ESP)
C=0.4694 (2351/5008, 1000G)
T=0.4176 (1871/4480, Estonian)
T=0.4673 (1801/3854, ALSPAC)
T=0.4771 (1769/3708, TWINSUK)
T=0.3833 (1123/2930, KOREAN)
C=0.4722 (984/2084, HGDP_Stanford)
C=0.4121 (774/1878, HapMap)
T=0.3897 (714/1832, Korea1K)
C=0.4250 (482/1134, Daghestan)
T=0.477 (476/998, GoNL)
T=0.322 (197/612, Vietnamese)
T=0.422 (253/600, NorthernSweden)
T=0.461 (246/534, MGP)
T=0.309 (125/404, SGDP_PRJ)
T=0.411 (125/304, FINRISK)
C=0.375 (81/216, Qatari)
T=0.40 (16/40, GENOME_DK)
T=0.39 (14/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CD226 : Missense Variant
Publications
86 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 18 NC_000018.10:g.69864406T>A
GRCh38.p12 chr 18 NC_000018.10:g.69864406T>C
GRCh38.p12 chr 18 NC_000018.10:g.69864406T>G
GRCh37.p13 chr 18 NC_000018.9:g.67531642T>A
GRCh37.p13 chr 18 NC_000018.9:g.67531642T>C
GRCh37.p13 chr 18 NC_000018.9:g.67531642T>G
Gene: CD226, CD226 molecule (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CD226 transcript variant 2 NM_001303618.2:c.919A>T S [AGT] > C [TGT] Coding Sequence Variant
CD226 antigen isoform a precursor NP_001290547.1:p.Ser307Cys S (Ser) > C (Cys) Missense Variant
CD226 transcript variant 2 NM_001303618.2:c.919A>G S [AGT] > G [GGT] Coding Sequence Variant
CD226 antigen isoform a precursor NP_001290547.1:p.Ser307Gly S (Ser) > G (Gly) Missense Variant
CD226 transcript variant 2 NM_001303618.2:c.919A>C S [AGT] > R [CGT] Coding Sequence Variant
CD226 antigen isoform a precursor NP_001290547.1:p.Ser307Arg S (Ser) > R (Arg) Missense Variant
CD226 transcript variant 1 NM_006566.4:c.919A>T S [AGT] > C [TGT] Coding Sequence Variant
CD226 antigen isoform a precursor NP_006557.2:p.Ser307Cys S (Ser) > C (Cys) Missense Variant
CD226 transcript variant 1 NM_006566.4:c.919A>G S [AGT] > G [GGT] Coding Sequence Variant
CD226 antigen isoform a precursor NP_006557.2:p.Ser307Gly S (Ser) > G (Gly) Missense Variant
CD226 transcript variant 1 NM_006566.4:c.919A>C S [AGT] > R [CGT] Coding Sequence Variant
CD226 antigen isoform a precursor NP_006557.2:p.Ser307Arg S (Ser) > R (Arg) Missense Variant
CD226 transcript variant 3 NM_001303619.2:c.454A>T S [AGT] > C [TGT] Coding Sequence Variant
CD226 antigen isoform b NP_001290548.1:p.Ser152Cys S (Ser) > C (Cys) Missense Variant
CD226 transcript variant 3 NM_001303619.2:c.454A>G S [AGT] > G [GGT] Coding Sequence Variant
CD226 antigen isoform b NP_001290548.1:p.Ser152Gly S (Ser) > G (Gly) Missense Variant
CD226 transcript variant 3 NM_001303619.2:c.454A>C S [AGT] > R [CGT] Coding Sequence Variant
CD226 antigen isoform b NP_001290548.1:p.Ser152Arg S (Ser) > R (Arg) Missense Variant
CD226 transcript variant X1 XM_005266642.3:c.919A>T S [AGT] > C [TGT] Coding Sequence Variant
CD226 antigen isoform X1 XP_005266699.1:p.Ser307Cys S (Ser) > C (Cys) Missense Variant
CD226 transcript variant X1 XM_005266642.3:c.919A>G S [AGT] > G [GGT] Coding Sequence Variant
CD226 antigen isoform X1 XP_005266699.1:p.Ser307Gly S (Ser) > G (Gly) Missense Variant
CD226 transcript variant X1 XM_005266642.3:c.919A>C S [AGT] > R [CGT] Coding Sequence Variant
CD226 antigen isoform X1 XP_005266699.1:p.Ser307Arg S (Ser) > R (Arg) Missense Variant
CD226 transcript variant X2 XM_006722374.3:c.550A>T S [AGT] > C [TGT] Coding Sequence Variant
CD226 antigen isoform X2 XP_006722437.1:p.Ser184Cys S (Ser) > C (Cys) Missense Variant
CD226 transcript variant X2 XM_006722374.3:c.550A>G S [AGT] > G [GGT] Coding Sequence Variant
CD226 antigen isoform X2 XP_006722437.1:p.Ser184Gly S (Ser) > G (Gly) Missense Variant
CD226 transcript variant X2 XM_006722374.3:c.550A>C S [AGT] > R [CGT] Coding Sequence Variant
CD226 antigen isoform X2 XP_006722437.1:p.Ser184Arg S (Ser) > R (Arg) Missense Variant
CD226 transcript variant X3 XM_017025525.1:c.454A>T S [AGT] > C [TGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_016881014.1:p.Ser152Cys S (Ser) > C (Cys) Missense Variant
CD226 transcript variant X3 XM_017025525.1:c.454A>G S [AGT] > G [GGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_016881014.1:p.Ser152Gly S (Ser) > G (Gly) Missense Variant
CD226 transcript variant X3 XM_017025525.1:c.454A>C S [AGT] > R [CGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_016881014.1:p.Ser152Arg S (Ser) > R (Arg) Missense Variant
CD226 transcript variant X4 XM_017025526.1:c.454A>T S [AGT] > C [TGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_016881015.1:p.Ser152Cys S (Ser) > C (Cys) Missense Variant
CD226 transcript variant X4 XM_017025526.1:c.454A>G S [AGT] > G [GGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_016881015.1:p.Ser152Gly S (Ser) > G (Gly) Missense Variant
CD226 transcript variant X4 XM_017025526.1:c.454A>C S [AGT] > R [CGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_016881015.1:p.Ser152Arg S (Ser) > R (Arg) Missense Variant
CD226 transcript variant X5 XM_017025527.1:c.454A>T S [AGT] > C [TGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_016881016.1:p.Ser152Cys S (Ser) > C (Cys) Missense Variant
CD226 transcript variant X5 XM_017025527.1:c.454A>G S [AGT] > G [GGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_016881016.1:p.Ser152Gly S (Ser) > G (Gly) Missense Variant
CD226 transcript variant X5 XM_017025527.1:c.454A>C S [AGT] > R [CGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_016881016.1:p.Ser152Arg S (Ser) > R (Arg) Missense Variant
CD226 transcript variant X6 XM_005266643.3:c.454A>T S [AGT] > C [TGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_005266700.1:p.Ser152Cys S (Ser) > C (Cys) Missense Variant
CD226 transcript variant X6 XM_005266643.3:c.454A>G S [AGT] > G [GGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_005266700.1:p.Ser152Gly S (Ser) > G (Gly) Missense Variant
CD226 transcript variant X6 XM_005266643.3:c.454A>C S [AGT] > R [CGT] Coding Sequence Variant
CD226 antigen isoform X3 XP_005266700.1:p.Ser152Arg S (Ser) > R (Arg) Missense Variant
Help

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

Not Reported in ClinVar

ALFA Allele Frequency (New)
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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 183390 T=0.490327 C=0.509673
European Sub 159246 T=0.482015 C=0.517985
African Sub 6658 T=0.6666 C=0.3334
African Others Sub 216 T=0.764 C=0.236
African American Sub 6442 T=0.6633 C=0.3367
Asian Sub 426 T=0.401 C=0.599
East Asian Sub 290 T=0.407 C=0.593
Other Asian Sub 136 T=0.390 C=0.610
Latin American 1 Sub 502 T=0.560 C=0.440
Latin American 2 Sub 1374 T=0.4505 C=0.5495
South Asian Sub 4904 T=0.5098 C=0.4902
Other Sub 10280 T=0.50126 C=0.49874


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
ALFA Total Global 183390 T=0.490327 C=0.509673
ALFA European Sub 159246 T=0.482015 C=0.517985
ALFA Other Sub 10280 T=0.50126 C=0.49874
ALFA African Sub 6658 T=0.6666 C=0.3334
ALFA South Asian Sub 4904 T=0.5098 C=0.4902
ALFA Latin American 2 Sub 1374 T=0.4505 C=0.5495
ALFA Latin American 1 Sub 502 T=0.560 C=0.440
ALFA Asian Sub 426 T=0.401 C=0.599
TopMed Global Study-wide 125568 T=0.535988 C=0.464012
The PAGE Study Global Study-wide 78700 T=0.56945 C=0.43055
The PAGE Study AfricanAmerican Sub 32516 T=0.68901 C=0.31099
The PAGE Study Mexican Sub 10808 T=0.45355 C=0.54645
The PAGE Study Asian Sub 8318 T=0.4281 C=0.5719
The PAGE Study PuertoRican Sub 7918 T=0.5460 C=0.4540
The PAGE Study NativeHawaiian Sub 4534 T=0.4552 C=0.5448
The PAGE Study Cuban Sub 4230 T=0.5031 C=0.4969
The PAGE Study Dominican Sub 3828 T=0.5852 C=0.4148
The PAGE Study CentralAmerican Sub 2450 T=0.4988 C=0.5012
The PAGE Study SouthAmerican Sub 1982 T=0.4561 C=0.5439
The PAGE Study NativeAmerican Sub 1260 T=0.5238 C=0.4762
The PAGE Study SouthAsian Sub 856 T=0.477 C=0.523
gnomAD - Genomes Global Study-wide 31316 T=0.51635 C=0.48365
gnomAD - Genomes European Sub 18860 T=0.45615 C=0.54385
gnomAD - Genomes African Sub 8688 T=0.6928 C=0.3072
gnomAD - Genomes East Asian Sub 1550 T=0.3368 C=0.6632
gnomAD - Genomes Other Sub 1086 T=0.4843 C=0.5157
gnomAD - Genomes American Sub 844 T=0.441 C=0.559
gnomAD - Genomes Ashkenazi Jewish Sub 288 T=0.444 C=0.556
GO Exome Sequencing Project Global Study-wide 13006 T=0.54790 C=0.45210
GO Exome Sequencing Project European American Sub 8600 T=0.4794 C=0.5206
GO Exome Sequencing Project African American Sub 4406 T=0.6816 C=0.3184
1000Genomes Global Study-wide 5008 T=0.5306 C=0.4694
1000Genomes African Sub 1322 T=0.7368 C=0.2632
1000Genomes East Asian Sub 1008 T=0.3879 C=0.6121
1000Genomes Europe Sub 1006 T=0.4732 C=0.5268
1000Genomes South Asian Sub 978 T=0.513 C=0.487
1000Genomes American Sub 694 T=0.452 C=0.548
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4176 C=0.5824
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4673 C=0.5327
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4771 C=0.5229
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.3833 A=0.0000, C=0.6167, G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.5278 C=0.4722
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.349 C=0.651
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.488 C=0.512
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.594 C=0.406
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.453 C=0.547
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.789 C=0.211
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.657 C=0.343
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.67 C=0.33
HapMap Global Study-wide 1878 T=0.5879 C=0.4121
HapMap American Sub 762 T=0.513 C=0.487
HapMap African Sub 688 T=0.743 C=0.257
HapMap Asian Sub 252 T=0.440 C=0.560
HapMap Europe Sub 176 T=0.517 C=0.483
Korean Genome Project KOREAN Study-wide 1832 T=0.3897 C=0.6103
Genome-wide autozygosity in Daghestan Global Study-wide 1134 T=0.5750 C=0.4250
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.613 C=0.387
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.618 C=0.382
Genome-wide autozygosity in Daghestan Central Asia Sub 120 T=0.500 C=0.500
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.463 C=0.537
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.51 C=0.49
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.50 C=0.50
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.477 C=0.523
A Vietnamese Genetic Variation Database Global Study-wide 612 T=0.322 C=0.678
Northern Sweden ACPOP Study-wide 600 T=0.422 C=0.578
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.461 C=0.539
SGDP_PRJ Global Study-wide 404 T=0.309 C=0.691
FINRISK Finnish from FINRISK project Study-wide 304 T=0.411 C=0.589
Qatari Global Study-wide 216 T=0.625 C=0.375
The Danish reference pan genome Danish Study-wide 40 T=0.40 C=0.60
Siberian Global Study-wide 36 T=0.39 C=0.61
Help

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

Placement T= A C G
GRCh38.p12 chr 18 NC_000018.10:g.69864406= NC_000018.10:g.69864406T>A NC_000018.10:g.69864406T>C NC_000018.10:g.69864406T>G
GRCh37.p13 chr 18 NC_000018.9:g.67531642= NC_000018.9:g.67531642T>A NC_000018.9:g.67531642T>C NC_000018.9:g.67531642T>G
CD226 transcript variant X1 XM_005266642.3:c.919= XM_005266642.3:c.919A>T XM_005266642.3:c.919A>G XM_005266642.3:c.919A>C
CD226 transcript variant X1 XM_005266642.1:c.919= XM_005266642.1:c.919A>T XM_005266642.1:c.919A>G XM_005266642.1:c.919A>C
CD226 transcript variant X2 XM_006722374.3:c.550= XM_006722374.3:c.550A>T XM_006722374.3:c.550A>G XM_006722374.3:c.550A>C
CD226 transcript variant X6 XM_005266643.3:c.454= XM_005266643.3:c.454A>T XM_005266643.3:c.454A>G XM_005266643.3:c.454A>C
CD226 transcript variant X2 XM_005266643.1:c.454= XM_005266643.1:c.454A>T XM_005266643.1:c.454A>G XM_005266643.1:c.454A>C
CD226 transcript variant 1 NM_006566.3:c.919= NM_006566.3:c.919A>T NM_006566.3:c.919A>G NM_006566.3:c.919A>C
CD226 transcript variant 1 NM_006566.4:c.919= NM_006566.4:c.919A>T NM_006566.4:c.919A>G NM_006566.4:c.919A>C
CD226 transcript NM_006566.2:c.919= NM_006566.2:c.919A>T NM_006566.2:c.919A>G NM_006566.2:c.919A>C
CD226 transcript variant 2 NM_001303618.2:c.919= NM_001303618.2:c.919A>T NM_001303618.2:c.919A>G NM_001303618.2:c.919A>C
CD226 transcript variant 2 NM_001303618.1:c.919= NM_001303618.1:c.919A>T NM_001303618.1:c.919A>G NM_001303618.1:c.919A>C
CD226 transcript variant X5 XM_017025527.1:c.454= XM_017025527.1:c.454A>T XM_017025527.1:c.454A>G XM_017025527.1:c.454A>C
CD226 transcript variant X3 XM_017025525.1:c.454= XM_017025525.1:c.454A>T XM_017025525.1:c.454A>G XM_017025525.1:c.454A>C
CD226 transcript variant X4 XM_017025526.1:c.454= XM_017025526.1:c.454A>T XM_017025526.1:c.454A>G XM_017025526.1:c.454A>C
CD226 transcript variant 3 NM_001303619.1:c.454= NM_001303619.1:c.454A>T NM_001303619.1:c.454A>G NM_001303619.1:c.454A>C
CD226 transcript variant 3 NM_001303619.2:c.454= NM_001303619.2:c.454A>T NM_001303619.2:c.454A>G NM_001303619.2:c.454A>C
CD226 antigen isoform X1 XP_005266699.1:p.Ser307= XP_005266699.1:p.Ser307Cys XP_005266699.1:p.Ser307Gly XP_005266699.1:p.Ser307Arg
CD226 antigen isoform X2 XP_006722437.1:p.Ser184= XP_006722437.1:p.Ser184Cys XP_006722437.1:p.Ser184Gly XP_006722437.1:p.Ser184Arg
CD226 antigen isoform X3 XP_005266700.1:p.Ser152= XP_005266700.1:p.Ser152Cys XP_005266700.1:p.Ser152Gly XP_005266700.1:p.Ser152Arg
CD226 antigen isoform a precursor NP_006557.2:p.Ser307= NP_006557.2:p.Ser307Cys NP_006557.2:p.Ser307Gly NP_006557.2:p.Ser307Arg
CD226 antigen isoform a precursor NP_001290547.1:p.Ser307= NP_001290547.1:p.Ser307Cys NP_001290547.1:p.Ser307Gly NP_001290547.1:p.Ser307Arg
CD226 antigen isoform X3 XP_016881016.1:p.Ser152= XP_016881016.1:p.Ser152Cys XP_016881016.1:p.Ser152Gly XP_016881016.1:p.Ser152Arg
CD226 antigen isoform X3 XP_016881014.1:p.Ser152= XP_016881014.1:p.Ser152Cys XP_016881014.1:p.Ser152Gly XP_016881014.1:p.Ser152Arg
CD226 antigen isoform X3 XP_016881015.1:p.Ser152= XP_016881015.1:p.Ser152Cys XP_016881015.1:p.Ser152Gly XP_016881015.1:p.Ser152Arg
CD226 antigen isoform b NP_001290548.1:p.Ser152= NP_001290548.1:p.Ser152Cys NP_001290548.1:p.Ser152Gly NP_001290548.1:p.Ser152Arg
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

164 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss149473 Oct 05, 2000 (86)
2 SC_JCM ss2656309 Nov 09, 2000 (92)
3 TSC-CSHL ss5197925 Oct 08, 2002 (108)
4 WI_SSAHASNP ss14404422 Dec 05, 2003 (119)
5 PERLEGEN ss24509880 Sep 20, 2004 (123)
6 SEQUENOM ss24803424 Sep 20, 2004 (123)
7 ABI ss44086831 Mar 15, 2006 (126)
8 ILLUMINA ss65729510 Oct 13, 2006 (127)
9 ILLUMINA ss66659517 Dec 03, 2006 (127)
10 ILLUMINA ss67810130 Dec 03, 2006 (127)
11 ILLUMINA ss67978435 Dec 03, 2006 (127)
12 PERLEGEN ss69218928 May 16, 2007 (127)
13 ILLUMINA ss70939504 May 23, 2008 (130)
14 ILLUMINA ss71542938 May 16, 2007 (127)
15 AFFY ss74810442 Aug 16, 2007 (128)
16 ILLUMINA ss75510564 Dec 06, 2007 (129)
17 ILLUMINA ss79264142 Dec 14, 2007 (130)
18 KRIBB_YJKIM ss83556042 Dec 14, 2007 (130)
19 HUMANGENOME_JCVI ss96522118 Feb 04, 2009 (130)
20 BGI ss103409358 Dec 01, 2009 (131)
21 1000GENOMES ss110795646 Jan 25, 2009 (130)
22 WTCCC ss120253550 Dec 01, 2009 (131)
23 ILLUMINA ss122799307 Dec 01, 2009 (131)
24 ENSEMBL ss142895652 Dec 01, 2009 (131)
25 ILLUMINA ss154436297 Dec 01, 2009 (131)
26 GMI ss155370378 Dec 01, 2009 (131)
27 ILLUMINA ss159611311 Dec 01, 2009 (131)
28 SEATTLESEQ ss159737501 Dec 01, 2009 (131)
29 ILLUMINA ss160897831 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss171955341 Jul 04, 2010 (132)
31 ILLUMINA ss172321627 Jul 04, 2010 (132)
32 ILLUMINA ss174464183 Jul 04, 2010 (132)
33 BCM-HGSC-SUB ss208154003 Jul 04, 2010 (132)
34 1000GENOMES ss211911699 Jul 14, 2010 (132)
35 1000GENOMES ss227950494 Jul 14, 2010 (132)
36 1000GENOMES ss237533195 Jul 15, 2010 (132)
37 1000GENOMES ss243769047 Jul 15, 2010 (132)
38 ILLUMINA ss244310324 Jul 04, 2010 (132)
39 BL ss255771800 May 09, 2011 (134)
40 GMI ss283054103 May 04, 2012 (137)
41 GMI ss287313478 Apr 25, 2013 (138)
42 PJP ss292101159 May 09, 2011 (134)
43 NHLBI-ESP ss342476576 May 09, 2011 (134)
44 ILLUMINA ss481624730 May 04, 2012 (137)
45 ILLUMINA ss481655018 May 04, 2012 (137)
46 ILLUMINA ss482622449 Sep 08, 2015 (146)
47 ILLUMINA ss485607187 May 04, 2012 (137)
48 1000GENOMES ss491141688 May 04, 2012 (137)
49 EXOME_CHIP ss491534460 May 04, 2012 (137)
50 CLINSEQ_SNP ss491751625 May 04, 2012 (137)
51 ILLUMINA ss537493942 Sep 08, 2015 (146)
52 TISHKOFF ss565743539 Apr 25, 2013 (138)
53 SSMP ss661584090 Apr 25, 2013 (138)
54 ILLUMINA ss778609583 Sep 08, 2015 (146)
55 ILLUMINA ss780737343 Aug 21, 2014 (142)
56 ILLUMINA ss783249212 Sep 08, 2015 (146)
57 ILLUMINA ss783414178 Aug 21, 2014 (142)
58 ILLUMINA ss784202844 Sep 08, 2015 (146)
59 ILLUMINA ss825594660 Jul 19, 2016 (147)
60 ILLUMINA ss832509915 Sep 08, 2015 (146)
61 ILLUMINA ss833122276 Jul 13, 2019 (153)
62 ILLUMINA ss834066972 Sep 08, 2015 (146)
63 JMKIDD_LAB ss974502418 Aug 21, 2014 (142)
64 EVA-GONL ss993902162 Aug 21, 2014 (142)
65 JMKIDD_LAB ss1067579921 Aug 21, 2014 (142)
66 JMKIDD_LAB ss1081631557 Aug 21, 2014 (142)
67 1000GENOMES ss1361668262 Aug 21, 2014 (142)
68 HAMMER_LAB ss1397750898 Sep 08, 2015 (146)
69 DDI ss1428273961 Apr 01, 2015 (144)
70 EVA_GENOME_DK ss1578476854 Apr 01, 2015 (144)
71 EVA_FINRISK ss1584111653 Apr 01, 2015 (144)
72 EVA_UK10K_ALSPAC ss1637224753 Apr 01, 2015 (144)
73 EVA_UK10K_TWINSUK ss1680218786 Apr 01, 2015 (144)
74 EVA_EXAC ss1693180714 Apr 01, 2015 (144)
75 EVA_EXAC ss1693180715 Apr 01, 2015 (144)
76 EVA_DECODE ss1697965582 Apr 01, 2015 (144)
77 EVA_MGP ss1711489008 Apr 01, 2015 (144)
78 EVA_SVP ss1713638926 Apr 01, 2015 (144)
79 ILLUMINA ss1752265797 Sep 08, 2015 (146)
80 ILLUMINA ss1752265798 Sep 08, 2015 (146)
81 HAMMER_LAB ss1809125772 Sep 08, 2015 (146)
82 ILLUMINA ss1917928293 Feb 12, 2016 (147)
83 WEILL_CORNELL_DGM ss1937370387 Feb 12, 2016 (147)
84 ILLUMINA ss1946511885 Feb 12, 2016 (147)
85 ILLUMINA ss1946511888 Feb 12, 2016 (147)
86 ILLUMINA ss1959816523 Feb 12, 2016 (147)
87 ILLUMINA ss1959816524 Feb 12, 2016 (147)
88 GENOMED ss1968566377 Jul 19, 2016 (147)
89 JJLAB ss2029459299 Sep 14, 2016 (149)
90 ILLUMINA ss2094897789 Dec 20, 2016 (150)
91 ILLUMINA ss2095081798 Dec 20, 2016 (150)
92 ILLUMINA ss2095081799 Dec 20, 2016 (150)
93 USC_VALOUEV ss2157966714 Dec 20, 2016 (150)
94 HUMAN_LONGEVITY ss2222903909 Dec 20, 2016 (150)
95 TOPMED ss2388316129 Dec 20, 2016 (150)
96 SYSTEMSBIOZJU ss2629228444 Nov 08, 2017 (151)
97 ILLUMINA ss2633493927 Nov 08, 2017 (151)
98 ILLUMINA ss2635079927 Nov 08, 2017 (151)
99 GRF ss2702562497 Nov 08, 2017 (151)
100 ILLUMINA ss2710872100 Nov 08, 2017 (151)
101 GNOMAD ss2743344357 Nov 08, 2017 (151)
102 GNOMAD ss2749972991 Nov 08, 2017 (151)
103 GNOMAD ss2958487141 Nov 08, 2017 (151)
104 AFFY ss2985121729 Nov 08, 2017 (151)
105 AFFY ss2985760479 Nov 08, 2017 (151)
106 SWEGEN ss3016789406 Nov 08, 2017 (151)
107 ILLUMINA ss3021856729 Nov 08, 2017 (151)
108 ILLUMINA ss3021856730 Nov 08, 2017 (151)
109 EVA_SAMSUNG_MC ss3023071303 Nov 08, 2017 (151)
110 BIOINF_KMB_FNS_UNIBA ss3028560015 Nov 08, 2017 (151)
111 TOPMED ss3283435666 Nov 08, 2017 (151)
112 CSHL ss3352102359 Nov 08, 2017 (151)
113 ILLUMINA ss3625728493 Oct 12, 2018 (152)
114 ILLUMINA ss3627846397 Oct 12, 2018 (152)
115 ILLUMINA ss3627846398 Oct 12, 2018 (152)
116 ILLUMINA ss3631469564 Oct 12, 2018 (152)
117 ILLUMINA ss3633168608 Oct 12, 2018 (152)
118 ILLUMINA ss3633877624 Oct 12, 2018 (152)
119 ILLUMINA ss3634713245 Oct 12, 2018 (152)
120 ILLUMINA ss3634713246 Oct 12, 2018 (152)
121 ILLUMINA ss3635564780 Oct 12, 2018 (152)
122 ILLUMINA ss3636403774 Oct 12, 2018 (152)
123 ILLUMINA ss3637316432 Oct 12, 2018 (152)
124 ILLUMINA ss3638205285 Oct 12, 2018 (152)
125 ILLUMINA ss3639111238 Oct 12, 2018 (152)
126 ILLUMINA ss3639564945 Oct 12, 2018 (152)
127 ILLUMINA ss3640420553 Oct 12, 2018 (152)
128 ILLUMINA ss3640420554 Oct 12, 2018 (152)
129 ILLUMINA ss3643180339 Oct 12, 2018 (152)
130 ILLUMINA ss3644709351 Oct 12, 2018 (152)
131 ILLUMINA ss3644709352 Oct 12, 2018 (152)
132 OMUKHERJEE_ADBS ss3646524637 Oct 12, 2018 (152)
133 URBANLAB ss3650827153 Oct 12, 2018 (152)
134 ILLUMINA ss3652279770 Oct 12, 2018 (152)
135 ILLUMINA ss3652279771 Oct 12, 2018 (152)
136 ILLUMINA ss3652279772 Oct 12, 2018 (152)
137 ILLUMINA ss3653894114 Oct 12, 2018 (152)
138 EGCUT_WGS ss3683641880 Jul 13, 2019 (153)
139 EVA_DECODE ss3701980322 Jul 13, 2019 (153)
140 ILLUMINA ss3725689044 Jul 13, 2019 (153)
141 ACPOP ss3742691220 Jul 13, 2019 (153)
142 ILLUMINA ss3744161200 Jul 13, 2019 (153)
143 ILLUMINA ss3744455209 Jul 13, 2019 (153)
144 ILLUMINA ss3745013354 Jul 13, 2019 (153)
145 ILLUMINA ss3745013355 Jul 13, 2019 (153)
146 EVA ss3755592507 Jul 13, 2019 (153)
147 PAGE_CC ss3771981594 Jul 13, 2019 (153)
148 ILLUMINA ss3772510808 Jul 13, 2019 (153)
149 ILLUMINA ss3772510809 Jul 13, 2019 (153)
150 PACBIO ss3788417261 Jul 13, 2019 (153)
151 PACBIO ss3793342423 Jul 13, 2019 (153)
152 PACBIO ss3798228852 Jul 13, 2019 (153)
153 KHV_HUMAN_GENOMES ss3820849448 Jul 13, 2019 (153)
154 EVA ss3825199176 Apr 27, 2020 (154)
155 EVA ss3825532089 Apr 27, 2020 (154)
156 EVA ss3825546702 Apr 27, 2020 (154)
157 EVA ss3825917687 Apr 27, 2020 (154)
158 EVA ss3835255202 Apr 27, 2020 (154)
159 EVA ss3841247688 Apr 27, 2020 (154)
160 EVA ss3846750696 Apr 27, 2020 (154)
161 HGDP ss3847589525 Apr 27, 2020 (154)
162 SGDP_PRJ ss3887358000 Apr 27, 2020 (154)
163 KRGDB ss3937257690 Apr 27, 2020 (154)
164 KOGIC ss3980454044 Apr 27, 2020 (154)
165 1000Genomes NC_000018.9 - 67531642 Oct 12, 2018 (152)
166 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 67531642 Oct 12, 2018 (152)
167 Genome-wide autozygosity in Daghestan NC_000018.8 - 65682622 Apr 27, 2020 (154)
168 Genetic variation in the Estonian population NC_000018.9 - 67531642 Oct 12, 2018 (152)
169 ExAC

Submission ignored due to conflicting rows:
Row 3654807 (NC_000018.9:67531641:T:T 59422/121364, NC_000018.9:67531641:T:C 61942/121364)
Row 3654808 (NC_000018.9:67531641:T:T 121363/121364, NC_000018.9:67531641:T:A 1/121364)

- Oct 12, 2018 (152)
170 ExAC

Submission ignored due to conflicting rows:
Row 3654807 (NC_000018.9:67531641:T:T 59422/121364, NC_000018.9:67531641:T:C 61942/121364)
Row 3654808 (NC_000018.9:67531641:T:T 121363/121364, NC_000018.9:67531641:T:A 1/121364)

- Oct 12, 2018 (152)
171 FINRISK NC_000018.9 - 67531642 Apr 27, 2020 (154)
172 The Danish reference pan genome NC_000018.9 - 67531642 Apr 27, 2020 (154)
173 gnomAD - Genomes NC_000018.9 - 67531642 Jul 13, 2019 (153)
174 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12657910 (NC_000018.9:67531641:T:T 251139/251140, NC_000018.9:67531641:T:A 1/251140)
Row 12657911 (NC_000018.9:67531641:T:T 120950/251140, NC_000018.9:67531641:T:C 130190/251140)

- Jul 13, 2019 (153)
175 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12657910 (NC_000018.9:67531641:T:T 251139/251140, NC_000018.9:67531641:T:A 1/251140)
Row 12657911 (NC_000018.9:67531641:T:T 120950/251140, NC_000018.9:67531641:T:C 130190/251140)

- Jul 13, 2019 (153)
176 GO Exome Sequencing Project NC_000018.9 - 67531642 Oct 12, 2018 (152)
177 Genome of the Netherlands Release 5 NC_000018.9 - 67531642 Apr 27, 2020 (154)
178 HGDP-CEPH-db Supplement 1 NC_000018.8 - 65682622 Apr 27, 2020 (154)
179 HapMap NC_000018.10 - 69864406 Apr 27, 2020 (154)
180 KOREAN population from KRGDB NC_000018.9 - 67531642 Apr 27, 2020 (154)
181 Korean Genome Project NC_000018.10 - 69864406 Apr 27, 2020 (154)
182 Medical Genome Project healthy controls from Spanish population NC_000018.9 - 67531642 Apr 27, 2020 (154)
183 Northern Sweden NC_000018.9 - 67531642 Jul 13, 2019 (153)
184 The PAGE Study NC_000018.10 - 69864406 Jul 13, 2019 (153)
185 Qatari NC_000018.9 - 67531642 Apr 27, 2020 (154)
186 SGDP_PRJ NC_000018.9 - 67531642 Apr 27, 2020 (154)
187 Siberian NC_000018.9 - 67531642 Apr 27, 2020 (154)
188 TopMed NC_000018.10 - 69864406 Oct 12, 2018 (152)
189 UK 10K study - Twins NC_000018.9 - 67531642 Oct 12, 2018 (152)
190 A Vietnamese Genetic Variation Database NC_000018.9 - 67531642 Jul 13, 2019 (153)
191 dbGaP Population Frequency Project NC_000018.10 - 69864406 Apr 27, 2020 (154)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs1790587 Jan 18, 2001 (92)
rs17800796 Oct 08, 2004 (123)
rs52822910 Sep 21, 2007 (128)
rs57176311 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
44435084, ss1693180715, ss2743344357, ss3937257690 NC_000018.9:67531641:T:A NC_000018.10:69864405:T:A (self)
220527, 267417, ss110795646, ss171955341, ss208154003, ss211911699, ss255771800, ss283054103, ss287313478, ss292101159, ss481624730, ss491751625, ss825594660, ss1397750898, ss1697965582, ss1713638926, ss2094897789, ss2635079927, ss3639111238, ss3639564945, ss3643180339, ss3847589525 NC_000018.8:65682621:T:C NC_000018.10:69864405:T:C (self)
75021007, 41583275, 29380128, 108114, 4665855, 204755174, 1656184, 18525880, 44435084, 604768, 15976085, 19412309, 39374980, 10483068, 41583275, 9191681, ss227950494, ss237533195, ss243769047, ss342476576, ss481655018, ss482622449, ss485607187, ss491141688, ss491534460, ss537493942, ss565743539, ss661584090, ss778609583, ss780737343, ss783249212, ss783414178, ss784202844, ss832509915, ss833122276, ss834066972, ss974502418, ss993902162, ss1067579921, ss1081631557, ss1361668262, ss1428273961, ss1578476854, ss1584111653, ss1637224753, ss1680218786, ss1693180714, ss1711489008, ss1752265797, ss1752265798, ss1809125772, ss1917928293, ss1937370387, ss1946511885, ss1946511888, ss1959816523, ss1959816524, ss1968566377, ss2029459299, ss2095081798, ss2095081799, ss2157966714, ss2388316129, ss2629228444, ss2633493927, ss2702562497, ss2710872100, ss2743344357, ss2749972991, ss2958487141, ss2985121729, ss2985760479, ss3016789406, ss3021856729, ss3021856730, ss3023071303, ss3352102359, ss3625728493, ss3627846397, ss3627846398, ss3631469564, ss3633168608, ss3633877624, ss3634713245, ss3634713246, ss3635564780, ss3636403774, ss3637316432, ss3638205285, ss3640420553, ss3640420554, ss3644709351, ss3644709352, ss3646524637, ss3652279770, ss3652279771, ss3652279772, ss3653894114, ss3683641880, ss3742691220, ss3744161200, ss3744455209, ss3745013354, ss3745013355, ss3755592507, ss3772510808, ss3772510809, ss3788417261, ss3793342423, ss3798228852, ss3825199176, ss3825532089, ss3825546702, ss3825917687, ss3835255202, ss3841247688, ss3887358000, ss3937257690 NC_000018.9:67531641:T:C NC_000018.10:69864405:T:C (self)
1638375, 36832045, 1203063, 173368014, 265159908, ss2222903909, ss3028560015, ss3283435666, ss3650827153, ss3701980322, ss3725689044, ss3771981594, ss3820849448, ss3846750696, ss3980454044 NC_000018.10:69864405:T:C NC_000018.10:69864405:T:C (self)
ss14404422 NT_025028.13:15322487:T:C NC_000018.10:69864405:T:C (self)
ss149473, ss2656309, ss5197925, ss24509880, ss24803424, ss44086831, ss65729510, ss66659517, ss67810130, ss67978435, ss69218928, ss70939504, ss71542938, ss74810442, ss75510564, ss79264142, ss83556042, ss96522118, ss103409358, ss120253550, ss122799307, ss142895652, ss154436297, ss155370378, ss159611311, ss159737501, ss160897831, ss172321627, ss174464183, ss244310324 NT_025028.14:15322505:T:C NC_000018.10:69864405:T:C (self)
44435084, ss3937257690 NC_000018.9:67531641:T:G NC_000018.10:69864405:T:G
Help

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

86 citations for rs763361
PMID Title Author Year Journal
17554260 Unavailable due to server error - - -
18853133 Unavailable due to server error - - -
18971939 Unavailable due to server error - - -
18987646 Unavailable due to server error - - -
19073967 Unavailable due to server error - - -
19359276 Unavailable due to server error - - -
19430480 Unavailable due to server error - - -
19624611 Unavailable due to server error - - -
19865102 Unavailable due to server error - - -
19951419 Unavailable due to server error - - -
20072139 Unavailable due to server error - - -
20089178 Unavailable due to server error - - -
20112382 Unavailable due to server error - - -
20182566 Unavailable due to server error - - -
20219786 Unavailable due to server error - - -
20236493 Unavailable due to server error - - -
20338887 Unavailable due to server error - - -
20362272 Unavailable due to server error - - -
20405052 Unavailable due to server error - - -
20444755 Unavailable due to server error - - -
20461788 Unavailable due to server error - - -
20498205 Unavailable due to server error - - -
20508602 Unavailable due to server error - - -
20587799 Unavailable due to server error - - -
20669283 Unavailable due to server error - - -
20805105 Unavailable due to server error - - -
20885991 Unavailable due to server error - - -
20887380 Unavailable due to server error - - -
20933377 Unavailable due to server error - - -
20952449 Unavailable due to server error - - -
20972032 Unavailable due to server error - - -
21162102 Unavailable due to server error - - -
21266329 Unavailable due to server error - - -
21280076 Unavailable due to server error - - -
21286723 Unavailable due to server error - - -
21521299 Unavailable due to server error - - -
21765104 Unavailable due to server error - - -
21826374 Unavailable due to server error - - -
21829393 Unavailable due to server error - - -
21852963 Unavailable due to server error - - -
21873553 Unavailable due to server error - - -
21980299 Unavailable due to server error - - -
22102179 Unavailable due to server error - - -
22190364 Unavailable due to server error - - -
22302395 Unavailable due to server error - - -
22531499 Unavailable due to server error - - -
22536486 Unavailable due to server error - - -
22577522 Unavailable due to server error - - -
22654554 Unavailable due to server error - - -
22654555 Unavailable due to server error - - -
22728856 Unavailable due to server error - - -
22941566 Unavailable due to server error - - -
23000205 Unavailable due to server error - - -
23073294 Unavailable due to server error - - -
23262348 Unavailable due to server error - - -
23999715 Unavailable due to server error - - -
24891767 Unavailable due to server error - - -
25057181 Unavailable due to server error - - -
25328554 Unavailable due to server error - - -
25645050 Unavailable due to server error - - -
25777745 Unavailable due to server error - - -
25980680 Unavailable due to server error - - -
26106387 Unavailable due to server error - - -
26346602 Unavailable due to server error - - -
26613086 Unavailable due to server error - - -
26808113 Unavailable due to server error - - -
26904692 Unavailable due to server error - - -
26997879 Unavailable due to server error - - -
27108704 Unavailable due to server error - - -
27454254 Unavailable due to server error - - -
27610404 Unavailable due to server error - - -
27722794 Unavailable due to server error - - -
28137889 Unavailable due to server error - - -
28262800 Unavailable due to server error - - -
28434122 Unavailable due to server error - - -
29220498 Unavailable due to server error - - -
29319370 Unavailable due to server error - - -
29338153 Unavailable due to server error - - -
29476163 Unavailable due to server error - - -
29625966 Unavailable due to server error - - -
29991650 Unavailable due to server error - - -
30128676 Unavailable due to server error - - -
30145014 Unavailable due to server error - - -
30327483 Unavailable due to server error - - -
31114873 Unavailable due to server error - - -
31854233 Unavailable due to server error - - -
Help

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

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post536+f5d31d6