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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.

rs187309637

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:94331773 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000858 (227/264690, TOPMED)
T=0.000184 (46/249394, GnomAD_exome)
T=0.000084 (14/167218, ALFA) (+ 8 more)
T=0.000756 (106/140256, GnomAD)
T=0.000215 (26/120748, ExAC)
T=0.00132 (104/78700, PAGE_STUDY)
T=0.00004 (1/28258, 14KJPN)
T=0.00006 (1/16760, 8.3KJPN)
T=0.00100 (12/12044, GO-ESP)
T=0.0011 (7/6404, 1000G_30x)
T=0.0010 (5/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CEP83 : Missense 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele
Total Global 183630 C=0.999804 T=0.000196
European Sub 155492 C=1.000000 T=0.000000
African Sub 9178 C=0.9964 T=0.0036
African Others Sub 352 C=0.997 T=0.003
African American Sub 8826 C=0.9964 T=0.0036
Asian Sub 6292 C=1.0000 T=0.0000
East Asian Sub 4474 C=1.0000 T=0.0000
Other Asian Sub 1818 C=1.0000 T=0.0000
Latin American 1 Sub 442 C=1.000 T=0.000
Latin American 2 Sub 950 C=1.000 T=0.000
South Asian Sub 280 C=1.000 T=0.000
Other Sub 10996 C=0.99973 T=0.00027


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
TopMed Global Study-wide 264690 C=0.999142 T=0.000858
gnomAD - Exomes Global Study-wide 249394 C=0.999816 T=0.000184
gnomAD - Exomes European Sub 134694 C=0.999970 T=0.000030
gnomAD - Exomes Asian Sub 48576 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34518 C=0.99988 T=0.00012
gnomAD - Exomes African Sub 15480 C=0.99755 T=0.00245
gnomAD - Exomes Ashkenazi Jewish Sub 10072 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6054 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 167218 C=0.999916 T=0.000084
Allele Frequency Aggregator European Sub 145352 C=1.000000 T=0.000000
Allele Frequency Aggregator Other Sub 9562 C=0.9999 T=0.0001
Allele Frequency Aggregator Asian Sub 6292 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 4340 C=0.9970 T=0.0030
Allele Frequency Aggregator Latin American 2 Sub 950 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 442 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 280 C=1.000 T=0.000
gnomAD - Genomes Global Study-wide 140256 C=0.999244 T=0.000756
gnomAD - Genomes European Sub 75940 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42048 C=0.99757 T=0.00243
gnomAD - Genomes American Sub 13660 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=0.9991 T=0.0009
ExAC Global Study-wide 120748 C=0.999785 T=0.000215
ExAC Europe Sub 73342 C=0.99996 T=0.00004
ExAC Asian Sub 25136 C=1.00000 T=0.00000
ExAC American Sub 11576 C=0.99991 T=0.00009
ExAC African Sub 9794 C=0.9978 T=0.0022
ExAC Other Sub 900 C=1.000 T=0.000
The PAGE Study Global Study-wide 78700 C=0.99868 T=0.00132
The PAGE Study AfricanAmerican Sub 32514 C=0.99739 T=0.00261
The PAGE Study Mexican Sub 10810 C=0.99972 T=0.00028
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9991 T=0.0009
The PAGE Study NativeHawaiian Sub 4534 C=1.0000 T=0.0000
The PAGE Study Cuban Sub 4230 C=0.9998 T=0.0002
The PAGE Study Dominican Sub 3828 C=0.9987 T=0.0013
The PAGE Study CentralAmerican Sub 2450 C=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 C=0.9985 T=0.0015
The PAGE Study NativeAmerican Sub 1260 C=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
14KJPN JAPANESE Study-wide 28258 C=0.99996 T=0.00004
8.3KJPN JAPANESE Study-wide 16760 C=0.99994 T=0.00006
GO Exome Sequencing Project Global Study-wide 12044 C=0.99900 T=0.00100
GO Exome Sequencing Project European American Sub 8240 C=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 3804 C=0.9971 T=0.0029
1000Genomes_30x Global Study-wide 6404 C=0.9989 T=0.0011
1000Genomes_30x African Sub 1786 C=0.9961 T=0.0039
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9990 T=0.0010
1000Genomes African Sub 1322 C=0.9962 T=0.0038
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
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 12 NC_000012.12:g.94331773C>T
GRCh37.p13 chr 12 NC_000012.11:g.94725549C>T
CEP83 RefSeqGene NG_051825.1:g.133216G>A
Gene: CEP83, centrosomal protein 83 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CEP83 transcript variant 6 NM_001346460.2:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 7 NM_001346461.2:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 8 NM_001346462.2:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 15 NM_001368042.1:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 10 NM_001368037.1:c.1634G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001354966.1:p.Arg545His R (Arg) > H (His) Missense Variant
CEP83 transcript variant 14 NM_001368041.1:c.1409G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform e NP_001354970.1:p.Arg470His R (Arg) > H (His) Missense Variant
CEP83 transcript variant 11 NM_001368038.1:c.1634G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001354967.1:p.Arg545His R (Arg) > H (His) Missense Variant
CEP83 transcript variant 12 NM_001368039.1:c.1322G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001354968.1:p.Arg441His R (Arg) > H (His) Missense Variant
CEP83 transcript variant 13 NM_001368040.1:c.1322G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001354969.1:p.Arg441His R (Arg) > H (His) Missense Variant
CEP83 transcript variant 1 NM_016122.3:c.1634G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_057206.2:p.Arg545His R (Arg) > H (His) Missense Variant
CEP83 transcript variant 3 NM_001346457.2:c.1634G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001333386.1:p.Arg545His R (Arg) > H (His) Missense Variant
CEP83 transcript variant 5 NM_001346459.2:c.1322G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001333388.1:p.Arg441His R (Arg) > H (His) Missense Variant
CEP83 transcript variant 4 NM_001346458.2:c.1322G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001333387.1:p.Arg441His R (Arg) > H (His) Missense Variant
CEP83 transcript variant 2 NM_001042399.2:c.1634G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001035858.1:p.Arg545His R (Arg) > H (His) Missense Variant
CEP83 transcript variant 17 NR_160432.1:n.2379G>A N/A Non Coding Transcript Variant
CEP83 transcript variant 16 NR_160431.1:n.1358G>A N/A Non Coding Transcript Variant
CEP83 transcript variant 9 NR_144441.2:n. N/A Genic Downstream Transcript Variant
CEP83 transcript variant X16 XM_047428928.1:c.*71= N/A 3 Prime UTR Variant
CEP83 transcript variant X17 XM_047428929.1:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant X18 XM_047428930.1:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant X3 XM_047428922.1:c.1634G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_047284878.1:p.Arg545His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X5 XM_011538424.3:c.1634G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_011536726.1:p.Arg545His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X7 XM_047428923.1:c.1634G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_047284879.1:p.Arg545His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X8 XM_017019385.3:c.1634G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_016874874.1:p.Arg545His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X9 XM_017019386.3:c.1634G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_016874875.1:p.Arg545His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X11 XM_017019389.3:c.1247G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X2 XP_016874878.1:p.Arg416His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X12 XM_047428925.1:c.1220G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284881.1:p.Arg407His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X13 XM_047428926.1:c.1220G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284882.1:p.Arg407His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X14 XM_024449005.2:c.1220G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_024304773.1:p.Arg407His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X15 XM_047428927.1:c.1220G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284883.1:p.Arg407His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X19 XM_024449007.2:c.860G>A R [CGT] > H [CAT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X6 XP_024304775.1:p.Arg287His R (Arg) > H (His) Missense Variant
CEP83 transcript variant X1 XR_007063080.1:n.2046G>A N/A Non Coding Transcript Variant
CEP83 transcript variant X2 XR_007063081.1:n.2046G>A N/A Non Coding Transcript Variant
CEP83 transcript variant X4 XR_007063082.1:n.2046G>A N/A Non Coding Transcript Variant
CEP83 transcript variant X6 XR_007063083.1:n.2046G>A N/A Non Coding Transcript Variant
CEP83 transcript variant X10 XR_007063084.1:n.2046G>A 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.

Allele: T (allele ID: 784496 )
ClinVar Accession Disease Names Clinical Significance
RCV000981725.5 Nephronophthisis 18 Likely-Benign
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= T
GRCh38.p14 chr 12 NC_000012.12:g.94331773= NC_000012.12:g.94331773C>T
GRCh37.p13 chr 12 NC_000012.11:g.94725549= NC_000012.11:g.94725549C>T
CEP83 RefSeqGene NG_051825.1:g.133216= NG_051825.1:g.133216G>A
CEP83 transcript variant 1 NM_016122.3:c.1634= NM_016122.3:c.1634G>A
CEP83 transcript variant 1 NM_016122.2:c.1634= NM_016122.2:c.1634G>A
CEP83 transcript variant 2 NM_001042399.2:c.1634= NM_001042399.2:c.1634G>A
CEP83 transcript variant 2 NM_001042399.1:c.1634= NM_001042399.1:c.1634G>A
CEP83 transcript variant 4 NM_001346458.2:c.1322= NM_001346458.2:c.1322G>A
CEP83 transcript variant 4 NM_001346458.1:c.1322= NM_001346458.1:c.1322G>A
CEP83 transcript variant 5 NM_001346459.2:c.1322= NM_001346459.2:c.1322G>A
CEP83 transcript variant 5 NM_001346459.1:c.1322= NM_001346459.1:c.1322G>A
CEP83 transcript variant 3 NM_001346457.2:c.1634= NM_001346457.2:c.1634G>A
CEP83 transcript variant 3 NM_001346457.1:c.1634= NM_001346457.1:c.1634G>A
CEP83 transcript variant 17 NR_160432.1:n.2379= NR_160432.1:n.2379G>A
CEP83 transcript variant 10 NM_001368037.1:c.1634= NM_001368037.1:c.1634G>A
CEP83 transcript variant 11 NM_001368038.1:c.1634= NM_001368038.1:c.1634G>A
CEP83 transcript variant 12 NM_001368039.1:c.1322= NM_001368039.1:c.1322G>A
CEP83 transcript variant 14 NM_001368041.1:c.1409= NM_001368041.1:c.1409G>A
CEP83 transcript variant 13 NM_001368040.1:c.1322= NM_001368040.1:c.1322G>A
CEP83 transcript variant 16 NR_160431.1:n.1358= NR_160431.1:n.1358G>A
CEP83 transcript variant X9 XM_017019386.3:c.1634= XM_017019386.3:c.1634G>A
CEP83 transcript variant X9 XM_017019386.2:c.1634= XM_017019386.2:c.1634G>A
CEP83 transcript variant X9 XM_017019386.1:c.1634= XM_017019386.1:c.1634G>A
CEP83 transcript variant X5 XM_011538424.3:c.1634= XM_011538424.3:c.1634G>A
CEP83 transcript variant X1 XM_011538424.2:c.1634= XM_011538424.2:c.1634G>A
CEP83 transcript variant X2 XM_011538424.1:c.1634= XM_011538424.1:c.1634G>A
CEP83 transcript variant X11 XM_017019389.3:c.1247= XM_017019389.3:c.1247G>A
CEP83 transcript variant X15 XM_017019389.2:c.1247= XM_017019389.2:c.1247G>A
CEP83 transcript variant X15 XM_017019389.1:c.1247= XM_017019389.1:c.1247G>A
CEP83 transcript variant X8 XM_017019385.3:c.1634= XM_017019385.3:c.1634G>A
CEP83 transcript variant X8 XM_017019385.2:c.1634= XM_017019385.2:c.1634G>A
CEP83 transcript variant X8 XM_017019385.1:c.1634= XM_017019385.1:c.1634G>A
CEP83 transcript variant X14 XM_024449005.2:c.1220= XM_024449005.2:c.1220G>A
CEP83 transcript variant X16 XM_024449005.1:c.1220= XM_024449005.1:c.1220G>A
CEP83 transcript variant X19 XM_024449007.2:c.860= XM_024449007.2:c.860G>A
CEP83 transcript variant X20 XM_024449007.1:c.860= XM_024449007.1:c.860G>A
CEP83 transcript variant X7 XM_047428923.1:c.1634= XM_047428923.1:c.1634G>A
CEP83 transcript variant X3 XM_047428922.1:c.1634= XM_047428922.1:c.1634G>A
CEP83 transcript variant X4 XR_007063082.1:n.2046= XR_007063082.1:n.2046G>A
CEP83 transcript variant X12 XM_047428925.1:c.1220= XM_047428925.1:c.1220G>A
CEP83 transcript variant X15 XM_047428927.1:c.1220= XM_047428927.1:c.1220G>A
CEP83 transcript variant X13 XM_047428926.1:c.1220= XM_047428926.1:c.1220G>A
CEP83 transcript variant X1 XR_007063080.1:n.2046= XR_007063080.1:n.2046G>A
CEP83 transcript variant X6 XR_007063083.1:n.2046= XR_007063083.1:n.2046G>A
CEP83 transcript variant X2 XR_007063081.1:n.2046= XR_007063081.1:n.2046G>A
CEP83 transcript variant X10 XR_007063084.1:n.2046= XR_007063084.1:n.2046G>A
CEP83 transcript variant X16 XM_047428928.1:c.*71= XM_047428928.1:c.*71G>A
centrosomal protein of 83 kDa isoform a NP_057206.2:p.Arg545= NP_057206.2:p.Arg545His
centrosomal protein of 83 kDa isoform a NP_001035858.1:p.Arg545= NP_001035858.1:p.Arg545His
centrosomal protein of 83 kDa isoform b NP_001333387.1:p.Arg441= NP_001333387.1:p.Arg441His
centrosomal protein of 83 kDa isoform b NP_001333388.1:p.Arg441= NP_001333388.1:p.Arg441His
centrosomal protein of 83 kDa isoform a NP_001333386.1:p.Arg545= NP_001333386.1:p.Arg545His
centrosomal protein of 83 kDa isoform a NP_001354966.1:p.Arg545= NP_001354966.1:p.Arg545His
centrosomal protein of 83 kDa isoform a NP_001354967.1:p.Arg545= NP_001354967.1:p.Arg545His
centrosomal protein of 83 kDa isoform b NP_001354968.1:p.Arg441= NP_001354968.1:p.Arg441His
centrosomal protein of 83 kDa isoform e NP_001354970.1:p.Arg470= NP_001354970.1:p.Arg470His
centrosomal protein of 83 kDa isoform b NP_001354969.1:p.Arg441= NP_001354969.1:p.Arg441His
centrosomal protein of 83 kDa isoform X1 XP_016874875.1:p.Arg545= XP_016874875.1:p.Arg545His
centrosomal protein of 83 kDa isoform X1 XP_011536726.1:p.Arg545= XP_011536726.1:p.Arg545His
centrosomal protein of 83 kDa isoform X2 XP_016874878.1:p.Arg416= XP_016874878.1:p.Arg416His
centrosomal protein of 83 kDa isoform X1 XP_016874874.1:p.Arg545= XP_016874874.1:p.Arg545His
centrosomal protein of 83 kDa isoform X3 XP_024304773.1:p.Arg407= XP_024304773.1:p.Arg407His
centrosomal protein of 83 kDa isoform X6 XP_024304775.1:p.Arg287= XP_024304775.1:p.Arg287His
centrosomal protein of 83 kDa isoform X1 XP_047284879.1:p.Arg545= XP_047284879.1:p.Arg545His
centrosomal protein of 83 kDa isoform X1 XP_047284878.1:p.Arg545= XP_047284878.1:p.Arg545His
centrosomal protein of 83 kDa isoform X3 XP_047284881.1:p.Arg407= XP_047284881.1:p.Arg407His
centrosomal protein of 83 kDa isoform X3 XP_047284883.1:p.Arg407= XP_047284883.1:p.Arg407His
centrosomal protein of 83 kDa isoform X3 XP_047284882.1:p.Arg407= XP_047284882.1:p.Arg407His
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#.

41 SubSNP, 11 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss463052735 Sep 17, 2011 (135)
2 1000GENOMES ss491048622 May 04, 2012 (137)
3 EXOME_CHIP ss491471949 May 04, 2012 (137)
4 NHLBI-ESP ss713110520 Apr 25, 2013 (138)
5 ILLUMINA ss780691282 Sep 08, 2015 (146)
6 ILLUMINA ss783365041 Sep 08, 2015 (146)
7 1000GENOMES ss1346183521 Aug 21, 2014 (142)
8 EVA_EXAC ss1691047395 Apr 01, 2015 (144)
9 ILLUMINA ss1752086774 Sep 08, 2015 (146)
10 ILLUMINA ss1917877268 Feb 12, 2016 (147)
11 ILLUMINA ss1946346307 Feb 12, 2016 (147)
12 ILLUMINA ss1959456442 Feb 12, 2016 (147)
13 HUMAN_LONGEVITY ss2192237765 Dec 20, 2016 (150)
14 GNOMAD ss2740036962 Nov 08, 2017 (151)
15 GNOMAD ss2748931862 Nov 08, 2017 (151)
16 GNOMAD ss2913884633 Nov 08, 2017 (151)
17 AFFY ss2984987296 Nov 08, 2017 (151)
18 ILLUMINA ss3021454657 Nov 08, 2017 (151)
19 ILLUMINA ss3626940709 Oct 12, 2018 (152)
20 ILLUMINA ss3634517678 Oct 12, 2018 (152)
21 ILLUMINA ss3640225011 Oct 12, 2018 (152)
22 ILLUMINA ss3644599301 Oct 12, 2018 (152)
23 ILLUMINA ss3651835910 Oct 12, 2018 (152)
24 ILLUMINA ss3653756964 Oct 12, 2018 (152)
25 ILLUMINA ss3725346784 Jul 13, 2019 (153)
26 ILLUMINA ss3744399393 Jul 13, 2019 (153)
27 ILLUMINA ss3744818479 Jul 13, 2019 (153)
28 PAGE_CC ss3771708824 Jul 13, 2019 (153)
29 ILLUMINA ss3772317733 Jul 13, 2019 (153)
30 EVA ss3824757692 Apr 27, 2020 (154)
31 TOPMED ss4928803091 Apr 27, 2021 (155)
32 TOMMO_GENOMICS ss5207644841 Apr 27, 2021 (155)
33 1000G_HIGH_COVERAGE ss5291833119 Oct 16, 2022 (156)
34 EVA ss5407499975 Oct 16, 2022 (156)
35 HUGCELL_USP ss5486474593 Oct 16, 2022 (156)
36 1000G_HIGH_COVERAGE ss5589866554 Oct 16, 2022 (156)
37 SANFORD_IMAGENETICS ss5653733424 Oct 16, 2022 (156)
38 TOMMO_GENOMICS ss5757815760 Oct 16, 2022 (156)
39 EVA ss5847679129 Oct 16, 2022 (156)
40 EVA ss5905559556 Oct 16, 2022 (156)
41 EVA ss5945122618 Oct 16, 2022 (156)
42 1000Genomes NC_000012.11 - 94725549 Oct 12, 2018 (152)
43 1000Genomes_30x NC_000012.12 - 94331773 Oct 16, 2022 (156)
44 ExAC NC_000012.11 - 94725549 Oct 12, 2018 (152)
45 gnomAD - Genomes NC_000012.12 - 94331773 Apr 27, 2021 (155)
46 gnomAD - Exomes NC_000012.11 - 94725549 Jul 13, 2019 (153)
47 GO Exome Sequencing Project NC_000012.11 - 94725549 Oct 12, 2018 (152)
48 The PAGE Study NC_000012.12 - 94331773 Jul 13, 2019 (153)
49 8.3KJPN NC_000012.11 - 94725549 Apr 27, 2021 (155)
50 14KJPN NC_000012.12 - 94331773 Oct 16, 2022 (156)
51 TopMed NC_000012.12 - 94331773 Apr 27, 2021 (155)
52 ALFA NC_000012.12 - 94331773 Apr 27, 2021 (155)
53 ClinVar RCV000981725.5 Oct 16, 2022 (156)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
58977100, 1356152, 9272268, 1215142, 65614148, ss463052735, ss491048622, ss491471949, ss713110520, ss780691282, ss783365041, ss1346183521, ss1691047395, ss1752086774, ss1917877268, ss1946346307, ss1959456442, ss2740036962, ss2748931862, ss2913884633, ss2984987296, ss3021454657, ss3626940709, ss3634517678, ss3640225011, ss3644599301, ss3651835910, ss3653756964, ss3744399393, ss3744818479, ss3772317733, ss3824757692, ss5207644841, ss5407499975, ss5653733424, ss5847679129, ss5945122618 NC_000012.11:94725548:C:T NC_000012.12:94331772:C:T (self)
RCV000981725.5, 77392489, 416023445, 930293, 91652864, 144348748, 8420357517, ss2192237765, ss3725346784, ss3771708824, ss4928803091, ss5291833119, ss5486474593, ss5589866554, ss5757815760, ss5905559556 NC_000012.12:94331772:C:T NC_000012.12:94331772: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 rs187309637

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.post774+babeb33