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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs11257

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:32846087 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.053391 (6354/119008, ALFA)
A=0.10109 (7864/77790, PAGE_STUDY)
A=0.00004 (1/28258, 14KJPN) (+ 16 more)
A=0.00012 (2/16760, 8.3KJPN)
A=0.0895 (573/6404, 1000G_30x)
A=0.0861 (431/5008, 1000G)
A=0.0442 (198/4480, Estonian)
A=0.0470 (181/3854, ALSPAC)
A=0.0502 (186/3708, TWINSUK)
A=0.0058 (17/2922, KOREAN)
A=0.054 (54/998, GoNL)
A=0.011 (9/792, PRJEB37584)
A=0.047 (28/600, NorthernSweden)
A=0.106 (23/216, Qatari)
A=0.005 (1/216, Vietnamese)
C=0.44 (34/78, SGDP_PRJ)
A=0.05 (2/40, GENOME_DK)
C=0.5 (2/4, Siberian)
A=0.5 (2/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PSMB8-AS1 : Non Coding Transcript Variant
TAP1 : Intron Variant
PSMB8 : 2KB Upstream 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 124044 C=0.945157 A=0.054843, T=0.000000
European Sub 110836 C=0.945252 A=0.054748, T=0.000000
African Sub 4468 C=0.8973 A=0.1027, T=0.0000
African Others Sub 170 C=0.882 A=0.118, T=0.000
African American Sub 4298 C=0.8979 A=0.1021, T=0.0000
Asian Sub 3304 C=0.9949 A=0.0051, T=0.0000
East Asian Sub 2680 C=0.9937 A=0.0063, T=0.0000
Other Asian Sub 624 C=1.000 A=0.000, T=0.000
Latin American 1 Sub 422 C=0.941 A=0.059, T=0.000
Latin American 2 Sub 880 C=0.985 A=0.015, T=0.000
South Asian Sub 268 C=0.978 A=0.022, T=0.000
Other Sub 3866 C=0.9444 A=0.0556, T=0.0000


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
Allele Frequency Aggregator Total Global 119008 C=0.946609 A=0.053391, T=0.000000
Allele Frequency Aggregator European Sub 107742 C=0.945202 A=0.054798, T=0.000000
Allele Frequency Aggregator African Sub 3326 C=0.9266 A=0.0734, T=0.0000
Allele Frequency Aggregator Asian Sub 3304 C=0.9949 A=0.0051, T=0.0000
Allele Frequency Aggregator Other Sub 3066 C=0.9527 A=0.0473, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 880 C=0.985 A=0.015, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 422 C=0.941 A=0.059, T=0.000
Allele Frequency Aggregator South Asian Sub 268 C=0.978 A=0.022, T=0.000
The PAGE Study Global Study-wide 77790 C=0.89891 A=0.10109
The PAGE Study AfricanAmerican Sub 32088 C=0.84321 A=0.15679
The PAGE Study Mexican Sub 10696 C=0.93699 A=0.06301
The PAGE Study Asian Sub 8234 C=0.9985 A=0.0015
The PAGE Study PuertoRican Sub 7824 C=0.9061 A=0.0939
The PAGE Study NativeHawaiian Sub 4482 C=0.9806 A=0.0194
The PAGE Study Cuban Sub 4192 C=0.9041 A=0.0959
The PAGE Study Dominican Sub 3794 C=0.8732 A=0.1268
The PAGE Study CentralAmerican Sub 2424 C=0.9224 A=0.0776
The PAGE Study SouthAmerican Sub 1966 C=0.9303 A=0.0697
The PAGE Study NativeAmerican Sub 1246 C=0.9278 A=0.0722
The PAGE Study SouthAsian Sub 844 C=0.968 A=0.032
14KJPN JAPANESE Study-wide 28258 C=0.99996 A=0.00004
8.3KJPN JAPANESE Study-wide 16760 C=0.99988 A=0.00012
1000Genomes_30x Global Study-wide 6404 C=0.9105 A=0.0895
1000Genomes_30x African Sub 1786 C=0.7996 A=0.2004
1000Genomes_30x Europe Sub 1266 C=0.9329 A=0.0671
1000Genomes_30x South Asian Sub 1202 C=0.9484 A=0.0516
1000Genomes_30x East Asian Sub 1170 C=0.9966 A=0.0034
1000Genomes_30x American Sub 980 C=0.935 A=0.065
1000Genomes Global Study-wide 5008 C=0.9139 A=0.0861
1000Genomes African Sub 1322 C=0.7958 A=0.2042
1000Genomes East Asian Sub 1008 C=0.9960 A=0.0040
1000Genomes Europe Sub 1006 C=0.9324 A=0.0676
1000Genomes South Asian Sub 978 C=0.953 A=0.047
1000Genomes American Sub 694 C=0.938 A=0.062
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9558 A=0.0442
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9530 A=0.0470
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9498 A=0.0502
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9938 A=0.0058, T=0.0003
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.946 A=0.054
CNV burdens in cranial meningiomas Global Study-wide 792 C=0.989 A=0.011
CNV burdens in cranial meningiomas CRM Sub 792 C=0.989 A=0.011
Northern Sweden ACPOP Study-wide 600 C=0.953 A=0.047
Qatari Global Study-wide 216 C=0.894 A=0.106
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.995 A=0.005
SGDP_PRJ Global Study-wide 78 C=0.44 A=0.56
The Danish reference pan genome Danish Study-wide 40 C=0.95 A=0.05
Siberian Global Study-wide 4 C=0.5 A=0.5
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.p14 chr 6 NC_000006.12:g.32846087C>A
GRCh38.p14 chr 6 NC_000006.12:g.32846087C>T
GRCh37.p13 chr 6 NC_000006.11:g.32813864C>A
GRCh37.p13 chr 6 NC_000006.11:g.32813864C>T
TAP1 RefSeqGene (LRG_166) NG_011759.1:g.12885G>T
TAP1 RefSeqGene (LRG_166) NG_011759.1:g.12885G>A
PSMB8 RefSeqGene (LRG_1328) NG_028165.1:g.3849G>T
PSMB8 RefSeqGene (LRG_1328) NG_028165.1:g.3849G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4258286C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4258286C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4258392C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4258392C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.4040375C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.4040375C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.4045971C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.4045971C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4265440C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4265440C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4271060C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4271060C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4245339C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4245339C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4244637C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4244637C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.4089657C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.4089657C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.4095242C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.4095242C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.4150952C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.4150952C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.4100868C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.4100868C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4145156C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4145156C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4150741C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4150741C>T
Gene: TAP1, transporter 1, ATP binding cassette subfamily B member (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TAP1 transcript variant 1 NM_000593.6:c.2041-302G>T N/A Intron Variant
TAP1 transcript variant 2 NM_001292022.2:c.1438-302…

NM_001292022.2:c.1438-302G>T

 		N/A Intron Variant
Gene: PSMB8, proteasome 20S subunit beta 8 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
PSMB8 transcript variant 1 NM_004159.5:c. N/A Upstream Transcript Variant
PSMB8 transcript variant 2 NM_148919.4:c. N/A N/A
Gene: PSMB8-AS1, PSMB8 antisense RNA 1 (head to head) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PSMB8-AS1 transcript variant 1 NR_037173.1:n.1085C>A N/A Non Coding Transcript Variant
PSMB8-AS1 transcript variant 1 NR_037173.1:n.1085C>T N/A Non Coding Transcript Variant
PSMB8-AS1 transcript variant 2 NR_037174.1:n.947C>A N/A Non Coding Transcript Variant
PSMB8-AS1 transcript variant 2 NR_037174.1:n.947C>T N/A Non Coding Transcript Variant
PSMB8-AS1 transcript variant 3 NR_037175.1:n.920C>A N/A Non Coding Transcript Variant
PSMB8-AS1 transcript variant 3 NR_037175.1:n.920C>T N/A Non Coding Transcript Variant
PSMB8-AS1 transcript variant 4 NR_037176.1:n.859C>A N/A Non Coding Transcript Variant
PSMB8-AS1 transcript variant 4 NR_037176.1:n.859C>T N/A Non Coding Transcript 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
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 C= A T
GRCh38.p14 chr 6 NC_000006.12:g.32846087= NC_000006.12:g.32846087C>A NC_000006.12:g.32846087C>T
GRCh37.p13 chr 6 NC_000006.11:g.32813864= NC_000006.11:g.32813864C>A NC_000006.11:g.32813864C>T
TAP1 RefSeqGene (LRG_166) NG_011759.1:g.12885= NG_011759.1:g.12885G>T NG_011759.1:g.12885G>A
PSMB8 RefSeqGene (LRG_1328) NG_028165.1:g.3849= NG_028165.1:g.3849G>T NG_028165.1:g.3849G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4258286= NT_113891.3:g.4258286C>A NT_113891.3:g.4258286C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4258392= NT_113891.2:g.4258392C>A NT_113891.2:g.4258392C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.4040375= NT_167248.2:g.4040375C>A NT_167248.2:g.4040375C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.4045971= NT_167248.1:g.4045971C>A NT_167248.1:g.4045971C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4265440= NT_167246.2:g.4265440C>A NT_167246.2:g.4265440C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4271060= NT_167246.1:g.4271060C>A NT_167246.1:g.4271060C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4245339= NT_167249.2:g.4245339C>A NT_167249.2:g.4245339C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4244637= NT_167249.1:g.4244637C>A NT_167249.1:g.4244637C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.4089657= NT_167245.2:g.4089657C>A NT_167245.2:g.4089657C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.4095242= NT_167245.1:g.4095242C>A NT_167245.1:g.4095242C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.4150952= NT_167244.2:g.4150952C>A NT_167244.2:g.4150952C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.4100868= NT_167244.1:g.4100868C>A NT_167244.1:g.4100868C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4145156= NT_167247.2:g.4145156C>A NT_167247.2:g.4145156C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4150741= NT_167247.1:g.4150741C>A NT_167247.1:g.4150741C>T
PSMB8-AS1 transcript variant 3 NR_037175.1:n.920= NR_037175.1:n.920C>A NR_037175.1:n.920C>T
PSMB8-AS1 transcript variant 1 NR_037173.1:n.1085= NR_037173.1:n.1085C>A NR_037173.1:n.1085C>T
PSMB8-AS1 transcript variant 2 NR_037174.1:n.947= NR_037174.1:n.947C>A NR_037174.1:n.947C>T
PSMB8-AS1 transcript variant 4 NR_037176.1:n.859= NR_037176.1:n.859C>A NR_037176.1:n.859C>T
TAP1 transcript variant 1 NM_000593.5:c.2221-302= NM_000593.5:c.2221-302G>T NM_000593.5:c.2221-302G>A
TAP1 transcript variant 1 NM_000593.6:c.2041-302= NM_000593.6:c.2041-302G>T NM_000593.6:c.2041-302G>A
TAP1 transcript variant 2 NM_001292022.2:c.1438-302= NM_001292022.2:c.1438-302G>T NM_001292022.2:c.1438-302G>A
TAP1 transcript variant X1 XM_005249331.1:c.1438-302= XM_005249331.1:c.1438-302G>T XM_005249331.1:c.1438-302G>A
TAP1 transcript variant X1 XM_005272862.1:c.1438-302= XM_005272862.1:c.1438-302G>T XM_005272862.1:c.1438-302G>A
TAP1 transcript variant X1 XM_005274883.1:c.1438-302= XM_005274883.1:c.1438-302G>T XM_005274883.1:c.1438-302G>A
TAP1 transcript variant X1 XM_005275014.1:c.1438-302= XM_005275014.1:c.1438-302G>T XM_005275014.1:c.1438-302G>A
TAP1 transcript variant X1 XM_005275153.1:c.1438-302= XM_005275153.1:c.1438-302G>T XM_005275153.1:c.1438-302G>A
TAP1 transcript variant X1 XM_005275284.1:c.1438-302= XM_005275284.1:c.1438-302G>T XM_005275284.1:c.1438-302G>A
TAP1 transcript variant X1 XM_005275446.1:c.1438-302= XM_005275446.1:c.1438-302G>T XM_005275446.1:c.1438-302G>A
TAP1 transcript variant X1 XM_005275585.1:c.1438-302= XM_005275585.1:c.1438-302G>T XM_005275585.1:c.1438-302G>A
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#.

71 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss13452 Sep 19, 2000 (52)
2 LEE ss1531243 Oct 04, 2000 (86)
3 LEE ss4395922 May 29, 2002 (106)
4 LEE ss4420503 May 29, 2002 (106)
5 SC_SNP ss13097407 Dec 05, 2003 (119)
6 CGAP-GAI ss16227738 Feb 27, 2004 (120)
7 1000GENOMES ss109924479 Feb 13, 2009 (130)
8 1000GENOMES ss114172329 Jan 25, 2009 (130)
9 COMPLETE_GENOMICS ss163375106 Jul 04, 2010 (132)
10 BUSHMAN ss201654901 Jul 04, 2010 (132)
11 1000GENOMES ss222320851 Jul 14, 2010 (132)
12 1000GENOMES ss233418318 Jul 14, 2010 (132)
13 ILLUMINA ss533513387 Sep 08, 2015 (146)
14 TISHKOFF ss559122377 Apr 25, 2013 (138)
15 EVA-GONL ss982789315 Aug 21, 2014 (142)
16 JMKIDD_LAB ss1073514471 Aug 21, 2014 (142)
17 1000GENOMES ss1319603427 Aug 21, 2014 (142)
18 EVA_GENOME_DK ss1581616741 Apr 01, 2015 (144)
19 EVA_DECODE ss1592322705 Apr 01, 2015 (144)
20 EVA_UK10K_ALSPAC ss1615294989 Apr 01, 2015 (144)
21 EVA_UK10K_TWINSUK ss1658289022 Apr 01, 2015 (144)
22 WEILL_CORNELL_DGM ss1926047194 Feb 12, 2016 (147)
23 ILLUMINA ss1946175004 Feb 12, 2016 (147)
24 ILLUMINA ss1958896415 Feb 12, 2016 (147)
25 JJLAB ss2023659384 Sep 14, 2016 (149)
26 USC_VALOUEV ss2151835431 Dec 20, 2016 (150)
27 HUMAN_LONGEVITY ss2283000631 Dec 20, 2016 (150)
28 ILLUMINA ss2634434658 Nov 08, 2017 (151)
29 ILLUMINA ss2711073087 Nov 08, 2017 (151)
30 GNOMAD ss2837529821 Nov 08, 2017 (151)
31 SWEGEN ss2998845725 Nov 08, 2017 (151)
32 ILLUMINA ss3022607234 Nov 08, 2017 (151)
33 BIOINF_KMB_FNS_UNIBA ss3025621351 Nov 08, 2017 (151)
34 ILLUMINA ss3625898826 Oct 12, 2018 (152)
35 ILLUMINA ss3629513342 Oct 12, 2018 (152)
36 ILLUMINA ss3644908045 Oct 12, 2018 (152)
37 ILLUMINA ss3653121411 Oct 12, 2018 (152)
38 EGCUT_WGS ss3666732641 Jul 13, 2019 (153)
39 EVA_DECODE ss3716943534 Jul 13, 2019 (153)
40 ILLUMINA ss3726334754 Jul 13, 2019 (153)
41 ACPOP ss3733384712 Jul 13, 2019 (153)
42 ILLUMINA ss3744269596 Jul 13, 2019 (153)
43 EVA ss3764849787 Jul 13, 2019 (153)
44 PAGE_CC ss3771283342 Jul 13, 2019 (153)
45 KHV_HUMAN_GENOMES ss3808006169 Jul 13, 2019 (153)
46 EVA ss3829853266 Apr 26, 2020 (154)
47 EVA ss3838404553 Apr 26, 2020 (154)
48 EVA ss3843848593 Apr 26, 2020 (154)
49 SGDP_PRJ ss3864307073 Apr 26, 2020 (154)
50 KRGDB ss3911085135 Apr 26, 2020 (154)
51 EVA ss3984566674 Apr 26, 2021 (155)
52 VINODS ss4025173805 Apr 26, 2021 (155)
53 VINODS ss4025215492 Apr 26, 2021 (155)
54 VINODS ss4025236820 Apr 26, 2021 (155)
55 VINODS ss4025274199 Apr 26, 2021 (155)
56 VINODS ss4025295172 Apr 26, 2021 (155)
57 TOPMED ss4698613609 Apr 26, 2021 (155)
58 TOPMED ss4698613610 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5176918123 Apr 26, 2021 (155)
60 1000G_HIGH_COVERAGE ss5267978891 Oct 13, 2022 (156)
61 EVA ss5364786142 Oct 13, 2022 (156)
62 HUGCELL_USP ss5465698974 Oct 13, 2022 (156)
63 EVA ss5508440376 Oct 13, 2022 (156)
64 1000G_HIGH_COVERAGE ss5553655423 Oct 13, 2022 (156)
65 SANFORD_IMAGENETICS ss5640135657 Oct 13, 2022 (156)
66 TOMMO_GENOMICS ss5714790245 Oct 13, 2022 (156)
67 YY_MCH ss5807348094 Oct 13, 2022 (156)
68 EVA ss5842053943 Oct 13, 2022 (156)
69 EVA ss5848091902 Oct 13, 2022 (156)
70 EVA ss5883283751 Oct 13, 2022 (156)
71 EVA ss5968624047 Oct 13, 2022 (156)
72 1000Genomes NC_000006.11 - 32813864 Oct 12, 2018 (152)
73 1000Genomes_30x NC_000006.12 - 32846087 Oct 13, 2022 (156)
74 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 32813864 Oct 12, 2018 (152)
75 Genetic variation in the Estonian population NC_000006.11 - 32813864 Oct 12, 2018 (152)
76 The Danish reference pan genome NC_000006.11 - 32813864 Apr 26, 2020 (154)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 221459223 (NC_000006.12:32846086:C:A 12445/140140)
Row 221459224 (NC_000006.12:32846086:C:T 2/140148)

- Apr 26, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 221459223 (NC_000006.12:32846086:C:A 12445/140140)
Row 221459224 (NC_000006.12:32846086:C:T 2/140148)

- Apr 26, 2021 (155)
79 Genome of the Netherlands Release 5 NC_000006.11 - 32813864 Apr 26, 2020 (154)
80 KOREAN population from KRGDB NC_000006.11 - 32813864 Apr 26, 2020 (154)
81 Northern Sweden NC_000006.11 - 32813864 Jul 13, 2019 (153)
82 The PAGE Study NC_000006.12 - 32846087 Jul 13, 2019 (153)
83 CNV burdens in cranial meningiomas NC_000006.11 - 32813864 Apr 26, 2021 (155)
84 Qatari NC_000006.11 - 32813864 Apr 26, 2020 (154)
85 SGDP_PRJ NC_000006.11 - 32813864 Apr 26, 2020 (154)
86 Siberian NC_000006.11 - 32813864 Apr 26, 2020 (154)
87 8.3KJPN NC_000006.11 - 32813864 Apr 26, 2021 (155)
88 14KJPN NC_000006.12 - 32846087 Oct 13, 2022 (156)
89 TopMed

Submission ignored due to conflicting rows:
Row 535991167 (NC_000006.12:32846086:C:A 24177/264690)
Row 535991168 (NC_000006.12:32846086:C:T 3/264690)

- Apr 26, 2021 (155)
90 TopMed

Submission ignored due to conflicting rows:
Row 535991167 (NC_000006.12:32846086:C:A 24177/264690)
Row 535991168 (NC_000006.12:32846086:C:T 3/264690)

- Apr 26, 2021 (155)
91 UK 10K study - Twins NC_000006.11 - 32813864 Oct 12, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000006.11 - 32813864 Jul 13, 2019 (153)
93 ALFA NC_000006.12 - 32846087 Apr 26, 2021 (155)
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)
rs3173319 Jul 03, 2002 (106)
rs115628764 Oct 26, 2010 (133)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss109924479, ss114172329, ss163375106, ss201654901, ss1592322705 NC_000006.10:32921841:C:A NC_000006.12:32846086:C:A (self)
31372471, 17486863, 12470889, 7781680, 7783658, 18262529, 6669577, 116080, 8089124, 16324053, 4351785, 34887430, 17486863, 3881789, ss222320851, ss233418318, ss533513387, ss559122377, ss982789315, ss1073514471, ss1319603427, ss1581616741, ss1615294989, ss1658289022, ss1926047194, ss1946175004, ss1958896415, ss2023659384, ss2151835431, ss2634434658, ss2711073087, ss2837529821, ss2998845725, ss3022607234, ss3625898826, ss3629513342, ss3644908045, ss3653121411, ss3666732641, ss3733384712, ss3744269596, ss3764849787, ss3829853266, ss3838404553, ss3864307073, ss3911085135, ss3984566674, ss5176918123, ss5364786142, ss5508440376, ss5640135657, ss5842053943, ss5848091902, ss5968624047 NC_000006.11:32813863:C:A NC_000006.12:32846086:C:A (self)
41181358, 504811, 48627349, 8688796986, ss2283000631, ss3025621351, ss3716943534, ss3726334754, ss3771283342, ss3808006169, ss3843848593, ss4698613609, ss5267978891, ss5465698974, ss5553655423, ss5714790245, ss5807348094, ss5883283751 NC_000006.12:32846086:C:A NC_000006.12:32846086:C:A (self)
ss13097407 NT_007592.13:23611096:C:A NC_000006.12:32846086:C:A (self)
ss13452, ss1531243, ss4395922, ss4420503, ss16227738 NT_007592.15:32753863:C:A NC_000006.12:32846086:C:A (self)
ss4025173805 NT_167244.2:4150951:C:A NC_000006.12:32846086:C:A (self)
ss4025215492 NT_167245.2:4089656:C:A NC_000006.12:32846086:C:A (self)
ss4025236820 NT_167246.2:4265439:C:A NC_000006.12:32846086:C:A (self)
ss4025274199 NT_167248.2:4040374:C:A NC_000006.12:32846086:C:A (self)
ss4025295172 NT_167249.2:4245338:C:A NC_000006.12:32846086:C:A (self)
18262529, ss3911085135 NC_000006.11:32813863:C:T NC_000006.12:32846086:C:T (self)
8688796986, ss4698613610 NC_000006.12:32846086:C:T NC_000006.12:32846086:C:T (self)
Help

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

No publications for rs11257

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.post761+d5e8e07