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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.

rs2295766

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:2953160 (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=0.000699 (195/278938, ALFA)
T=0.001953 (517/264690, TOPMED)
T=0.004076 (1025/251480, GnomAD_exome) (+ 15 more)
T=0.001084 (152/140248, GnomAD)
T=0.003353 (407/121398, ExAC)
T=0.00422 (332/78700, PAGE_STUDY)
T=0.00234 (66/28258, 14KJPN)
T=0.00257 (43/16760, 8.3KJPN)
T=0.00008 (1/13006, GO-ESP)
T=0.0042 (27/6404, 1000G_30x)
T=0.0038 (19/5008, 1000G)
T=0.0196 (64/3272, PRJNA289433)
T=0.0062 (18/2922, KOREAN)
T=0.0044 (8/1832, Korea1K)
T=0.0192 (20/1042, HapMap)
T=0.014 (11/790, PRJEB37584)
T=0.026 (16/614, Vietnamese)
T=0.002 (1/534, MGP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SERPINB6 : Missense Variant
Publications
1 citation
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 Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 279060 C=0.999301 T=0.000699 0.998602 0.0 0.001398 0
European Sub 239138 C=0.999971 T=0.000029 0.999941 0.0 0.000059 0
African Sub 8598 C=0.9999 T=0.0001 0.999767 0.0 0.000233 0
African Others Sub 300 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 8298 C=0.9999 T=0.0001 0.999759 0.0 0.000241 0
Asian Sub 6850 C=0.9869 T=0.0131 0.973723 0.0 0.026277 0
East Asian Sub 4898 C=0.9880 T=0.0120 0.975909 0.0 0.024091 0
Other Asian Sub 1952 C=0.9841 T=0.0159 0.968238 0.0 0.031762 0
Latin American 1 Sub 1318 C=0.9992 T=0.0008 0.998483 0.0 0.001517 0
Latin American 2 Sub 2530 C=0.9889 T=0.0111 0.977866 0.0 0.022134 0
South Asian Sub 366 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Other Sub 20260 C=0.99664 T=0.00336 0.993287 0.0 0.006713 0


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 278938 C=0.999301 T=0.000699
Allele Frequency Aggregator European Sub 239034 C=0.999971 T=0.000029
Allele Frequency Aggregator Other Sub 20256 C=0.99664 T=0.00336
Allele Frequency Aggregator African Sub 8584 C=0.9999 T=0.0001
Allele Frequency Aggregator Asian Sub 6850 C=0.9869 T=0.0131
Allele Frequency Aggregator Latin American 2 Sub 2530 C=0.9889 T=0.0111
Allele Frequency Aggregator Latin American 1 Sub 1318 C=0.9992 T=0.0008
Allele Frequency Aggregator South Asian Sub 366 C=1.000 T=0.000
TopMed Global Study-wide 264690 C=0.998047 T=0.001953
gnomAD - Exomes Global Study-wide 251480 C=0.995924 T=0.004076
gnomAD - Exomes European Sub 135402 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 49010 C=0.99168 T=0.00832
gnomAD - Exomes American Sub 34592 C=0.98277 T=0.01723
gnomAD - Exomes African Sub 16256 C=0.99994 T=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6140 C=0.9969 T=0.0031
gnomAD - Genomes Global Study-wide 140248 C=0.998916 T=0.001084
gnomAD - Genomes European Sub 75954 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42028 C=0.99993 T=0.00007
gnomAD - Genomes American Sub 13660 C=0.99539 T=0.00461
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3130 C=0.9748 T=0.0252
gnomAD - Genomes Other Sub 2154 C=0.9972 T=0.0028
ExAC Global Study-wide 121398 C=0.996647 T=0.003353
ExAC Europe Sub 73346 C=0.99997 T=0.00003
ExAC Asian Sub 25160 C=0.99221 T=0.00779
ExAC American Sub 11578 C=0.98229 T=0.01771
ExAC African Sub 10406 C=0.99990 T=0.00010
ExAC Other Sub 908 C=0.997 T=0.003
The PAGE Study Global Study-wide 78700 C=0.99578 T=0.00422
The PAGE Study AfricanAmerican Sub 32514 C=0.99997 T=0.00003
The PAGE Study Mexican Sub 10810 C=0.98400 T=0.01600
The PAGE Study Asian Sub 8318 C=0.9925 T=0.0075
The PAGE Study PuertoRican Sub 7918 C=0.9996 T=0.0004
The PAGE Study NativeHawaiian Sub 4534 C=0.9863 T=0.0137
The PAGE Study Cuban Sub 4230 C=0.9993 T=0.0007
The PAGE Study Dominican Sub 3828 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 C=0.9955 T=0.0045
The PAGE Study SouthAmerican Sub 1982 C=0.9934 T=0.0066
The PAGE Study NativeAmerican Sub 1260 C=0.9968 T=0.0032
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
14KJPN JAPANESE Study-wide 28258 C=0.99766 T=0.00234
8.3KJPN JAPANESE Study-wide 16760 C=0.99743 T=0.00257
GO Exome Sequencing Project Global Study-wide 13006 C=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8600 C=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 4406 C=1.0000 T=0.0000
1000Genomes_30x Global Study-wide 6404 C=0.9958 T=0.0042
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
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=0.9821 T=0.0179
1000Genomes_30x American Sub 980 C=0.994 T=0.006
1000Genomes Global Study-wide 5008 C=0.9962 T=0.0038
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=0.9851 T=0.0149
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=0.994 T=0.006
MxGDAR/Encodat-PGx Global Study-wide 3272 C=0.9804 T=0.0196
MxGDAR/Encodat-PGx MxGDAR Sub 3272 C=0.9804 T=0.0196
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9938 T=0.0062
Korean Genome Project KOREAN Study-wide 1832 C=0.9956 T=0.0044
HapMap Global Study-wide 1042 C=0.9808 T=0.0192
HapMap African Sub 406 C=0.995 T=0.005
HapMap American Sub 384 C=0.971 T=0.029
HapMap Asian Sub 252 C=0.972 T=0.028
CNV burdens in cranial meningiomas Global Study-wide 790 C=0.986 T=0.014
CNV burdens in cranial meningiomas CRM Sub 790 C=0.986 T=0.014
A Vietnamese Genetic Variation Database Global Study-wide 614 C=0.974 T=0.026
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.998 T=0.002
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.2953160C>T
GRCh37.p13 chr 6 NC_000006.11:g.2953394C>T
SERPINB6 RefSeqGene NG_027692.1:g.24006G>A
Gene: SERPINB6, serpin family B member 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SERPINB6 transcript variant 6 NM_001271825.2:c.457G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform a NP_001258754.1:p.Gly153Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 3 NM_001271822.2:c.499G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform c NP_001258751.1:p.Gly167Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 10 NM_001374516.1:c.457G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform a NP_001361445.1:p.Gly153Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 9 NM_001374515.1:c.469G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform b NP_001361444.1:p.Gly157Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 8 NM_001297700.2:c.457G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform a NP_001284629.1:p.Gly153Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 7 NM_001297699.2:c.457G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform a NP_001284628.1:p.Gly153Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 2 NM_001195291.3:c.469G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform b NP_001182220.2:p.Gly157Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 4 NM_001271823.2:c.514G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform d NP_001258752.1:p.Gly172Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 1 NM_004568.6:c.457G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform a NP_004559.4:p.Gly153Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 5 NM_001271824.2:c.457G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform a NP_001258753.1:p.Gly153Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 11 NM_001374517.1:c.325G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform e NP_001361446.1:p.Gly109Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant 12 NR_164657.1:n.502G>A N/A Non Coding Transcript Variant
SERPINB6 transcript variant X1 XM_047418883.1:c.691G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X1 XP_047274839.1:p.Gly231Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X2 XM_011514672.2:c.691G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X1 XP_011512974.1:p.Gly231Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X3 XM_047418884.1:c.691G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X1 XP_047274840.1:p.Gly231Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X4 XM_047418885.1:c.691G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X1 XP_047274841.1:p.Gly231Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X5 XM_047418887.1:c.691G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X1 XP_047274843.1:p.Gly231Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X6 XM_047418888.1:c.691G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X1 XP_047274844.1:p.Gly231Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X7 XM_047418889.1:c.469G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X2 XP_047274845.1:p.Gly157Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X11 XM_047418890.1:c.469G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X5 XP_047274846.1:p.Gly157Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X12 XM_047418891.1:c.457G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X3 XP_047274847.1:p.Gly153Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X8 XM_047418892.1:c.457G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X3 XP_047274848.1:p.Gly153Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X10 XM_017010941.2:c.325G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X4 XP_016866430.1:p.Gly109Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X9 XM_047418893.1:c.325G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X4 XP_047274849.1:p.Gly109Ser G (Gly) > S (Ser) Missense Variant
SERPINB6 transcript variant X13 XM_024446465.2:c.325G>A G [GGC] > S [AGC] Coding Sequence Variant
serpin B6 isoform X4 XP_024302233.1:p.Gly109Ser G (Gly) > S (Ser) 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.

Allele: T (allele ID: 53302 )
ClinVar Accession Disease Names Clinical Significance
RCV000037110.7 not specified Benign
RCV000948728.8 not provided 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 6 NC_000006.12:g.2953160= NC_000006.12:g.2953160C>T
GRCh37.p13 chr 6 NC_000006.11:g.2953394= NC_000006.11:g.2953394C>T
SERPINB6 RefSeqGene NG_027692.1:g.24006= NG_027692.1:g.24006G>A
SERPINB6 transcript variant 1 NM_004568.6:c.457= NM_004568.6:c.457G>A
SERPINB6 transcript variant 1 NM_004568.5:c.457= NM_004568.5:c.457G>A
SERPINB6 transcript variant 2 NM_001195291.3:c.469= NM_001195291.3:c.469G>A
SERPINB6 transcript variant 2 NM_001195291.2:c.469= NM_001195291.2:c.469G>A
SERPINB6 transcript variant 4 NM_001271823.2:c.514= NM_001271823.2:c.514G>A
SERPINB6 transcript variant 4 NM_001271823.1:c.514= NM_001271823.1:c.514G>A
SERPINB6 transcript variant 3 NM_001271822.2:c.499= NM_001271822.2:c.499G>A
SERPINB6 transcript variant 3 NM_001271822.1:c.499= NM_001271822.1:c.499G>A
SERPINB6 transcript variant 7 NM_001297699.2:c.457= NM_001297699.2:c.457G>A
SERPINB6 transcript variant 7 NM_001297699.1:c.457= NM_001297699.1:c.457G>A
SERPINB6 transcript variant 6 NM_001271825.2:c.457= NM_001271825.2:c.457G>A
SERPINB6 transcript variant 6 NM_001271825.1:c.457= NM_001271825.1:c.457G>A
SERPINB6 transcript variant 8 NM_001297700.2:c.457= NM_001297700.2:c.457G>A
SERPINB6 transcript variant 8 NM_001297700.1:c.457= NM_001297700.1:c.457G>A
SERPINB6 transcript variant 5 NM_001271824.2:c.457= NM_001271824.2:c.457G>A
SERPINB6 transcript variant 5 NM_001271824.1:c.457= NM_001271824.1:c.457G>A
SERPINB6 transcript variant 9 NM_001374515.1:c.469= NM_001374515.1:c.469G>A
SERPINB6 transcript variant 11 NM_001374517.1:c.325= NM_001374517.1:c.325G>A
SERPINB6 transcript variant 12 NR_164657.1:n.502= NR_164657.1:n.502G>A
SERPINB6 transcript variant 10 NM_001374516.1:c.457= NM_001374516.1:c.457G>A
SERPINB6 transcript variant X10 XM_017010941.2:c.325= XM_017010941.2:c.325G>A
SERPINB6 transcript variant X7 XM_017010941.1:c.325= XM_017010941.1:c.325G>A
SERPINB6 transcript variant X2 XM_011514672.2:c.691= XM_011514672.2:c.691G>A
SERPINB6 transcript variant X1 XM_011514672.1:c.691= XM_011514672.1:c.691G>A
SERPINB6 transcript variant X13 XM_024446465.2:c.325= XM_024446465.2:c.325G>A
SERPINB6 transcript variant X9 XM_024446465.1:c.325= XM_024446465.1:c.325G>A
SERPINB6 transcript variant X1 XM_047418883.1:c.691= XM_047418883.1:c.691G>A
SERPINB6 transcript variant X7 XM_047418889.1:c.469= XM_047418889.1:c.469G>A
SERPINB6 transcript variant X11 XM_047418890.1:c.469= XM_047418890.1:c.469G>A
SERPINB6 transcript variant X12 XM_047418891.1:c.457= XM_047418891.1:c.457G>A
SERPINB6 transcript variant X3 XM_047418884.1:c.691= XM_047418884.1:c.691G>A
SERPINB6 transcript variant X5 XM_047418887.1:c.691= XM_047418887.1:c.691G>A
SERPINB6 transcript variant X4 XM_047418885.1:c.691= XM_047418885.1:c.691G>A
SERPINB6 transcript variant X8 XM_047418892.1:c.457= XM_047418892.1:c.457G>A
SERPINB6 transcript variant X6 XM_047418888.1:c.691= XM_047418888.1:c.691G>A
SERPINB6 transcript variant X9 XM_047418893.1:c.325= XM_047418893.1:c.325G>A
serpin B6 isoform a NP_004559.4:p.Gly153= NP_004559.4:p.Gly153Ser
serpin B6 isoform b NP_001182220.2:p.Gly157= NP_001182220.2:p.Gly157Ser
serpin B6 isoform d NP_001258752.1:p.Gly172= NP_001258752.1:p.Gly172Ser
serpin B6 isoform c NP_001258751.1:p.Gly167= NP_001258751.1:p.Gly167Ser
serpin B6 isoform a NP_001284628.1:p.Gly153= NP_001284628.1:p.Gly153Ser
serpin B6 isoform a NP_001258754.1:p.Gly153= NP_001258754.1:p.Gly153Ser
serpin B6 isoform a NP_001284629.1:p.Gly153= NP_001284629.1:p.Gly153Ser
serpin B6 isoform a NP_001258753.1:p.Gly153= NP_001258753.1:p.Gly153Ser
serpin B6 isoform b NP_001361444.1:p.Gly157= NP_001361444.1:p.Gly157Ser
serpin B6 isoform e NP_001361446.1:p.Gly109= NP_001361446.1:p.Gly109Ser
serpin B6 isoform a NP_001361445.1:p.Gly153= NP_001361445.1:p.Gly153Ser
serpin B6 isoform X4 XP_016866430.1:p.Gly109= XP_016866430.1:p.Gly109Ser
serpin B6 isoform X1 XP_011512974.1:p.Gly231= XP_011512974.1:p.Gly231Ser
serpin B6 isoform X4 XP_024302233.1:p.Gly109= XP_024302233.1:p.Gly109Ser
serpin B6 isoform X1 XP_047274839.1:p.Gly231= XP_047274839.1:p.Gly231Ser
serpin B6 isoform X2 XP_047274845.1:p.Gly157= XP_047274845.1:p.Gly157Ser
serpin B6 isoform X5 XP_047274846.1:p.Gly157= XP_047274846.1:p.Gly157Ser
serpin B6 isoform X3 XP_047274847.1:p.Gly153= XP_047274847.1:p.Gly153Ser
serpin B6 isoform X1 XP_047274840.1:p.Gly231= XP_047274840.1:p.Gly231Ser
serpin B6 isoform X1 XP_047274843.1:p.Gly231= XP_047274843.1:p.Gly231Ser
serpin B6 isoform X1 XP_047274841.1:p.Gly231= XP_047274841.1:p.Gly231Ser
serpin B6 isoform X3 XP_047274848.1:p.Gly153= XP_047274848.1:p.Gly153Ser
serpin B6 isoform X1 XP_047274844.1:p.Gly231= XP_047274844.1:p.Gly231Ser
serpin B6 isoform X4 XP_047274849.1:p.Gly109= XP_047274849.1:p.Gly109Ser
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#.

91 SubSNP, 18 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3239642 Sep 28, 2001 (100)
2 AFFY ss74815703 Aug 16, 2007 (128)
3 ILLUMINA ss74904125 Dec 07, 2007 (129)
4 KRIBB_YJKIM ss102645608 Feb 06, 2009 (130)
5 ILLUMINA ss160531920 Dec 01, 2009 (131)
6 ILLUMINA ss173266474 Jul 04, 2010 (132)
7 1000GENOMES ss333041162 May 09, 2011 (134)
8 ILLUMINA ss480517389 May 04, 2012 (137)
9 ILLUMINA ss480531591 May 04, 2012 (137)
10 ILLUMINA ss481342154 Sep 08, 2015 (146)
11 ILLUMINA ss485056055 May 04, 2012 (137)
12 1000GENOMES ss490918603 May 04, 2012 (137)
13 EXOME_CHIP ss491377111 May 04, 2012 (137)
14 ILLUMINA ss537072897 Sep 08, 2015 (146)
15 SSMP ss652870083 Apr 25, 2013 (138)
16 NHLBI-ESP ss712688121 Apr 25, 2013 (138)
17 ILLUMINA ss778490937 Sep 08, 2015 (146)
18 ILLUMINA ss780845086 Sep 08, 2015 (146)
19 ILLUMINA ss782974239 Sep 08, 2015 (146)
20 ILLUMINA ss783528600 Sep 08, 2015 (146)
21 ILLUMINA ss783935542 Sep 08, 2015 (146)
22 ILLUMINA ss832230616 Sep 08, 2015 (146)
23 ILLUMINA ss833946940 Sep 08, 2015 (146)
24 JMKIDD_LAB ss1067474902 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1073329483 Aug 21, 2014 (142)
26 1000GENOMES ss1318717953 Aug 21, 2014 (142)
27 EVA_EXAC ss1688140531 Apr 01, 2015 (144)
28 EVA_MGP ss1711110333 Apr 01, 2015 (144)
29 EVA_SVP ss1712829978 Apr 01, 2015 (144)
30 ILLUMINA ss1752624074 Sep 08, 2015 (146)
31 ILLUMINA ss1752624075 Sep 08, 2015 (146)
32 ILLUMINA ss1917798757 Feb 12, 2016 (147)
33 ILLUMINA ss1946165827 Feb 12, 2016 (147)
34 ILLUMINA ss1958856896 Feb 12, 2016 (147)
35 AMU ss1966656336 Feb 12, 2016 (147)
36 GENOMED ss1970294347 Jul 19, 2016 (147)
37 HUMAN_LONGEVITY ss2281271849 Dec 20, 2016 (150)
38 ILLUMINA ss2634390492 Nov 08, 2017 (151)
39 GRF ss2707247758 Nov 08, 2017 (151)
40 GNOMAD ss2735511052 Nov 08, 2017 (151)
41 GNOMAD ss2747538127 Nov 08, 2017 (151)
42 GNOMAD ss2835087523 Nov 08, 2017 (151)
43 AFFY ss2985351601 Nov 08, 2017 (151)
44 ILLUMINA ss3022568420 Nov 08, 2017 (151)
45 ILLUMINA ss3629428059 Oct 12, 2018 (152)
46 ILLUMINA ss3629428060 Oct 12, 2018 (152)
47 ILLUMINA ss3632311129 Oct 12, 2018 (152)
48 ILLUMINA ss3633403513 Oct 12, 2018 (152)
49 ILLUMINA ss3634125401 Oct 12, 2018 (152)
50 ILLUMINA ss3635041090 Oct 12, 2018 (152)
51 ILLUMINA ss3635041091 Oct 12, 2018 (152)
52 ILLUMINA ss3635806797 Oct 12, 2018 (152)
53 ILLUMINA ss3636755465 Oct 12, 2018 (152)
54 ILLUMINA ss3637559508 Oct 12, 2018 (152)
55 ILLUMINA ss3638602956 Oct 12, 2018 (152)
56 ILLUMINA ss3640748385 Oct 12, 2018 (152)
57 ILLUMINA ss3640748386 Oct 12, 2018 (152)
58 ILLUMINA ss3643545152 Oct 12, 2018 (152)
59 ILLUMINA ss3644898885 Oct 12, 2018 (152)
60 ILLUMINA ss3653076127 Oct 12, 2018 (152)
61 ILLUMINA ss3654119846 Oct 12, 2018 (152)
62 ILLUMINA ss3726304748 Jul 13, 2019 (153)
63 ILLUMINA ss3744545113 Jul 13, 2019 (153)
64 ILLUMINA ss3745341214 Jul 13, 2019 (153)
65 ILLUMINA ss3745341215 Jul 13, 2019 (153)
66 EVA ss3764532017 Jul 13, 2019 (153)
67 PAGE_CC ss3771257841 Jul 13, 2019 (153)
68 ILLUMINA ss3772835043 Jul 13, 2019 (153)
69 ILLUMINA ss3772835044 Jul 13, 2019 (153)
70 KHV_HUMAN_GENOMES ss3807692902 Jul 13, 2019 (153)
71 EVA ss3824151620 Apr 26, 2020 (154)
72 KRGDB ss3910516361 Apr 26, 2020 (154)
73 KOGIC ss3958375424 Apr 26, 2020 (154)
74 EVA ss3984448375 Apr 26, 2021 (155)
75 EVA ss3984560381 Apr 26, 2021 (155)
76 EVA ss4017251392 Apr 26, 2021 (155)
77 TOPMED ss4691573909 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5175874520 Apr 26, 2021 (155)
79 EVA ss5237019378 Apr 26, 2021 (155)
80 1000G_HIGH_COVERAGE ss5267175904 Oct 13, 2022 (156)
81 TRAN_CS_UWATERLOO ss5314414947 Oct 13, 2022 (156)
82 EVA ss5315116317 Oct 13, 2022 (156)
83 EVA ss5363402542 Oct 13, 2022 (156)
84 1000G_HIGH_COVERAGE ss5552497066 Oct 13, 2022 (156)
85 SANFORD_IMAGENETICS ss5639637765 Oct 13, 2022 (156)
86 TOMMO_GENOMICS ss5713458375 Oct 13, 2022 (156)
87 YY_MCH ss5807095222 Oct 13, 2022 (156)
88 EVA ss5848078523 Oct 13, 2022 (156)
89 EVA ss5855173821 Oct 13, 2022 (156)
90 EVA ss5882395731 Oct 13, 2022 (156)
91 EVA ss5968130755 Oct 13, 2022 (156)
92 1000Genomes NC_000006.11 - 2953394 Oct 12, 2018 (152)
93 1000Genomes_30x NC_000006.12 - 2953160 Oct 13, 2022 (156)
94 ExAC NC_000006.11 - 2953394 Oct 12, 2018 (152)
95 gnomAD - Genomes NC_000006.12 - 2953160 Apr 26, 2021 (155)
96 gnomAD - Exomes NC_000006.11 - 2953394 Jul 13, 2019 (153)
97 GO Exome Sequencing Project NC_000006.11 - 2953394 Oct 12, 2018 (152)
98 HapMap NC_000006.12 - 2953160 Apr 26, 2020 (154)
99 KOREAN population from KRGDB NC_000006.11 - 2953394 Apr 26, 2020 (154)
100 Korean Genome Project NC_000006.12 - 2953160 Apr 26, 2020 (154)
101 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 2953394 Apr 26, 2020 (154)
102 The PAGE Study NC_000006.12 - 2953160 Jul 13, 2019 (153)
103 CNV burdens in cranial meningiomas NC_000006.11 - 2953394 Apr 26, 2021 (155)
104 MxGDAR/Encodat-PGx NC_000006.11 - 2953394 Apr 26, 2021 (155)
105 8.3KJPN NC_000006.11 - 2953394 Apr 26, 2021 (155)
106 14KJPN NC_000006.12 - 2953160 Oct 13, 2022 (156)
107 TopMed NC_000006.12 - 2953160 Apr 26, 2021 (155)
108 A Vietnamese Genetic Variation Database NC_000006.11 - 2953394 Jul 13, 2019 (153)
109 ALFA NC_000006.12 - 2953160 Apr 26, 2021 (155)
110 ClinVar RCV000037110.7 Oct 13, 2022 (156)
111 ClinVar RCV000948728.8 Oct 13, 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).

Associated ID History Updated (Build)
rs52810334 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss480517389, ss1712829978, ss3643545152 NC_000006.10:2898392:C:T NC_000006.12:2953159:C:T (self)
30450373, 8157804, 4646200, 609677, 17693755, 226093, 109756, 1376, 33843827, 3753716, ss333041162, ss480531591, ss481342154, ss485056055, ss490918603, ss491377111, ss537072897, ss652870083, ss712688121, ss778490937, ss780845086, ss782974239, ss783528600, ss783935542, ss832230616, ss833946940, ss1067474902, ss1073329483, ss1318717953, ss1688140531, ss1711110333, ss1752624074, ss1752624075, ss1917798757, ss1946165827, ss1958856896, ss1966656336, ss1970294347, ss2634390492, ss2707247758, ss2735511052, ss2747538127, ss2835087523, ss2985351601, ss3022568420, ss3629428059, ss3629428060, ss3632311129, ss3633403513, ss3634125401, ss3635041090, ss3635041091, ss3635806797, ss3636755465, ss3637559508, ss3638602956, ss3640748385, ss3640748386, ss3644898885, ss3653076127, ss3654119846, ss3744545113, ss3745341214, ss3745341215, ss3764532017, ss3772835043, ss3772835044, ss3824151620, ss3910516361, ss3984448375, ss3984560381, ss4017251392, ss5175874520, ss5315116317, ss5363402542, ss5639637765, ss5848078523, ss5968130755 NC_000006.11:2953393:C:T NC_000006.12:2953159:C:T (self)
RCV000037110.7, RCV000948728.8, 40023001, 215319207, 3045854, 14753425, 479310, 47295479, 528951467, 14277659255, ss2281271849, ss3726304748, ss3771257841, ss3807692902, ss3958375424, ss4691573909, ss5237019378, ss5267175904, ss5314414947, ss5552497066, ss5713458375, ss5807095222, ss5855173821, ss5882395731 NC_000006.12:2953159:C:T NC_000006.12:2953159:C:T (self)
ss3239642, ss74815703, ss74904125, ss102645608, ss160531920, ss173266474 NT_007592.15:2893393:C:T NC_000006.12:2953159: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.

1 citation for rs2295766
PMID Title Author Year Journal
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
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.post820+afb47a3d