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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.

rs2303071

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:148108804 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.383056 (101391/264690, TOPMED)
C=0.441360 (108834/246588, GnomAD_exome)
C=0.465146 (77497/166608, ALFA) (+ 21 more)
C=0.447318 (53968/120648, ExAC)
T=0.42714 (12070/28258, 14KJPN)
T=0.43085 (7221/16760, 8.3KJPN)
C=0.40492 (4791/11832, GO-ESP)
C=0.3904 (2500/6404, 1000G_30x)
C=0.3980 (1993/5008, 1000G)
T=0.4560 (2043/4480, Estonian)
C=0.4715 (1817/3854, ALSPAC)
C=0.4674 (1733/3708, TWINSUK)
T=0.4485 (1314/2930, KOREAN)
C=0.3862 (730/1890, HapMap)
T=0.4416 (809/1832, Korea1K)
C=0.452 (451/998, GoNL)
C=0.430 (263/612, Vietnamese)
T=0.477 (286/600, NorthernSweden)
C=0.494 (264/534, MGP)
C=0.264 (119/450, SGDP_PRJ)
C=0.467 (142/304, FINRISK)
C=0.412 (89/216, Qatari)
C=0.29 (14/48, Siberian)
C=0.42 (17/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SPINK5 : Synonymous Variant
Publications
2 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 182932 C=0.459351 A=0.000000, T=0.540649
European Sub 149740 C=0.481214 A=0.000000, T=0.518786
African Sub 12094 C=0.26277 A=0.00000, T=0.73723
African Others Sub 410 C=0.241 A=0.000, T=0.759
African American Sub 11684 C=0.26352 A=0.00000, T=0.73648
Asian Sub 600 C=0.532 A=0.000, T=0.468
East Asian Sub 460 C=0.559 A=0.000, T=0.441
Other Asian Sub 140 C=0.443 A=0.000, T=0.557
Latin American 1 Sub 986 C=0.389 A=0.000, T=0.611
Latin American 2 Sub 5786 C=0.2910 A=0.0000, T=0.7090
South Asian Sub 130 C=0.638 A=0.000, T=0.362
Other Sub 13596 C=0.46521 A=0.00000, T=0.53479


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=0.383056 T=0.616944
gnomAD - Exomes Global Study-wide 246588 C=0.441360 T=0.558640
gnomAD - Exomes European Sub 132006 C=0.474516 T=0.525484
gnomAD - Exomes Asian Sub 48562 C=0.51658 T=0.48342
gnomAD - Exomes American Sub 34482 C=0.27269 T=0.72731
gnomAD - Exomes African Sub 15466 C=0.23684 T=0.76316
gnomAD - Exomes Ashkenazi Jewish Sub 10046 C=0.52727 T=0.47273
gnomAD - Exomes Other Sub 6026 C=0.4557 T=0.5443
Allele Frequency Aggregator Total Global 166608 C=0.465146 A=0.000000, T=0.534854
Allele Frequency Aggregator European Sub 139674 C=0.481779 A=0.000000, T=0.518221
Allele Frequency Aggregator Other Sub 12166 C=0.47024 A=0.00000, T=0.52976
Allele Frequency Aggregator African Sub 7266 C=0.2772 A=0.0000, T=0.7228
Allele Frequency Aggregator Latin American 2 Sub 5786 C=0.2910 A=0.0000, T=0.7090
Allele Frequency Aggregator Latin American 1 Sub 986 C=0.389 A=0.000, T=0.611
Allele Frequency Aggregator Asian Sub 600 C=0.532 A=0.000, T=0.468
Allele Frequency Aggregator South Asian Sub 130 C=0.638 A=0.000, T=0.362
ExAC Global Study-wide 120648 C=0.447318 T=0.552682
ExAC Europe Sub 73302 C=0.48334 T=0.51666
ExAC Asian Sub 25116 C=0.51075 T=0.48925
ExAC American Sub 11542 C=0.25542 T=0.74458
ExAC African Sub 9790 C=0.2383 T=0.7617
ExAC Other Sub 898 C=0.478 T=0.522
14KJPN JAPANESE Study-wide 28258 C=0.57286 T=0.42714
8.3KJPN JAPANESE Study-wide 16760 C=0.56915 T=0.43085
GO Exome Sequencing Project Global Study-wide 11832 C=0.40492 T=0.59508
GO Exome Sequencing Project European American Sub 8162 C=0.4805 T=0.5195
GO Exome Sequencing Project African American Sub 3670 C=0.2368 T=0.7632
1000Genomes_30x Global Study-wide 6404 C=0.3904 T=0.6096
1000Genomes_30x African Sub 1786 C=0.1988 T=0.8012
1000Genomes_30x Europe Sub 1266 C=0.5016 T=0.4984
1000Genomes_30x South Asian Sub 1202 C=0.4975 T=0.5025
1000Genomes_30x East Asian Sub 1170 C=0.5162 T=0.4838
1000Genomes_30x American Sub 980 C=0.314 T=0.686
1000Genomes Global Study-wide 5008 C=0.3980 T=0.6020
1000Genomes African Sub 1322 C=0.1914 T=0.8086
1000Genomes East Asian Sub 1008 C=0.5149 T=0.4851
1000Genomes Europe Sub 1006 C=0.5099 T=0.4901
1000Genomes South Asian Sub 978 C=0.491 T=0.509
1000Genomes American Sub 694 C=0.329 T=0.671
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5440 T=0.4560
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.4715 T=0.5285
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.4674 T=0.5326
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.5515 T=0.4485
HapMap Global Study-wide 1890 C=0.3862 T=0.6138
HapMap American Sub 770 C=0.442 T=0.558
HapMap African Sub 692 C=0.224 T=0.776
HapMap Asian Sub 252 C=0.532 T=0.468
HapMap Europe Sub 176 C=0.574 T=0.426
Korean Genome Project KOREAN Study-wide 1832 C=0.5584 T=0.4416
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.452 T=0.548
A Vietnamese Genetic Variation Database Global Study-wide 612 C=0.430 T=0.570
Northern Sweden ACPOP Study-wide 600 C=0.523 T=0.477
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.494 T=0.506
SGDP_PRJ Global Study-wide 450 C=0.264 T=0.736
FINRISK Finnish from FINRISK project Study-wide 304 C=0.467 T=0.533
Qatari Global Study-wide 216 C=0.412 T=0.588
Siberian Global Study-wide 48 C=0.29 T=0.71
The Danish reference pan genome Danish Study-wide 40 C=0.42 T=0.57
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 5 NC_000005.10:g.148108804C>A
GRCh38.p14 chr 5 NC_000005.10:g.148108804C>G
GRCh38.p14 chr 5 NC_000005.10:g.148108804C>T
GRCh37.p13 chr 5 NC_000005.9:g.147488367C>A
GRCh37.p13 chr 5 NC_000005.9:g.147488367C>G
GRCh37.p13 chr 5 NC_000005.9:g.147488367C>T
SPINK5 RefSeqGene (LRG_110) NG_009633.1:g.49833C>A
SPINK5 RefSeqGene (LRG_110) NG_009633.1:g.49833C>G
SPINK5 RefSeqGene (LRG_110) NG_009633.1:g.49833C>T
Gene: SPINK5, serine peptidase inhibitor Kazal type 5 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SPINK5 transcript variant 1 NM_001127698.2:c.1659C>A V [GTC] > V [GTA] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform a preproprotein NP_001121170.1:p.Val553= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant 1 NM_001127698.2:c.1659C>G V [GTC] > V [GTG] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform a preproprotein NP_001121170.1:p.Val553= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant 1 NM_001127698.2:c.1659C>T V [GTC] > V [GTT] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform a preproprotein NP_001121170.1:p.Val553= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant 3 NM_001127699.2:c.1659C>A V [GTC] > V [GTA] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform c preproprotein NP_001121171.1:p.Val553= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant 3 NM_001127699.2:c.1659C>G V [GTC] > V [GTG] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform c preproprotein NP_001121171.1:p.Val553= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant 3 NM_001127699.2:c.1659C>T V [GTC] > V [GTT] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform c preproprotein NP_001121171.1:p.Val553= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant 2 NM_006846.4:c.1659C>A V [GTC] > V [GTA] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform b preproprotein NP_006837.2:p.Val553= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant 2 NM_006846.4:c.1659C>G V [GTC] > V [GTG] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform b preproprotein NP_006837.2:p.Val553= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant 2 NM_006846.4:c.1659C>T V [GTC] > V [GTT] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform b preproprotein NP_006837.2:p.Val553= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant X1 XM_047416662.1:c.1602C>A V [GTC] > V [GTA] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform X1 XP_047272618.1:p.Val534= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant X1 XM_047416662.1:c.1602C>G V [GTC] > V [GTG] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform X1 XP_047272618.1:p.Val534= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant X1 XM_047416662.1:c.1602C>T V [GTC] > V [GTT] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform X1 XP_047272618.1:p.Val534= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant X2 XM_011537551.3:c.1575C>A V [GTC] > V [GTA] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform X2 XP_011535853.1:p.Val525= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant X2 XM_011537551.3:c.1575C>G V [GTC] > V [GTG] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform X2 XP_011535853.1:p.Val525= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant X2 XM_011537551.3:c.1575C>T V [GTC] > V [GTT] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform X2 XP_011535853.1:p.Val525= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant X3 XM_047416663.1:c.903C>A V [GTC] > V [GTA] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform X3 XP_047272619.1:p.Val301= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant X3 XM_047416663.1:c.903C>G V [GTC] > V [GTG] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform X3 XP_047272619.1:p.Val301= V (Val) > V (Val) Synonymous Variant
SPINK5 transcript variant X3 XM_047416663.1:c.903C>T V [GTC] > V [GTT] Coding Sequence Variant
serine protease inhibitor Kazal-type 5 isoform X3 XP_047272619.1:p.Val301= V (Val) > V (Val) Synonymous 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: 192019 )
ClinVar Accession Disease Names Clinical Significance
RCV000175321.6 not specified Benign
RCV000345642.8 Netherton syndrome Benign
RCV001711971.2 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= A G T
GRCh38.p14 chr 5 NC_000005.10:g.148108804= NC_000005.10:g.148108804C>A NC_000005.10:g.148108804C>G NC_000005.10:g.148108804C>T
GRCh37.p13 chr 5 NC_000005.9:g.147488367= NC_000005.9:g.147488367C>A NC_000005.9:g.147488367C>G NC_000005.9:g.147488367C>T
SPINK5 RefSeqGene (LRG_110) NG_009633.1:g.49833= NG_009633.1:g.49833C>A NG_009633.1:g.49833C>G NG_009633.1:g.49833C>T
SPINK5 transcript variant 2 NM_006846.4:c.1659= NM_006846.4:c.1659C>A NM_006846.4:c.1659C>G NM_006846.4:c.1659C>T
SPINK5 transcript variant 2 NM_006846.3:c.1659= NM_006846.3:c.1659C>A NM_006846.3:c.1659C>G NM_006846.3:c.1659C>T
SPINK5 transcript variant 1 NM_001127698.2:c.1659= NM_001127698.2:c.1659C>A NM_001127698.2:c.1659C>G NM_001127698.2:c.1659C>T
SPINK5 transcript variant 1 NM_001127698.1:c.1659= NM_001127698.1:c.1659C>A NM_001127698.1:c.1659C>G NM_001127698.1:c.1659C>T
SPINK5 transcript variant 3 NM_001127699.2:c.1659= NM_001127699.2:c.1659C>A NM_001127699.2:c.1659C>G NM_001127699.2:c.1659C>T
SPINK5 transcript variant 3 NM_001127699.1:c.1659= NM_001127699.1:c.1659C>A NM_001127699.1:c.1659C>G NM_001127699.1:c.1659C>T
SPINK5 transcript variant X2 XM_011537551.3:c.1575= XM_011537551.3:c.1575C>A XM_011537551.3:c.1575C>G XM_011537551.3:c.1575C>T
SPINK5 transcript variant X1 XM_011537551.2:c.1575= XM_011537551.2:c.1575C>A XM_011537551.2:c.1575C>G XM_011537551.2:c.1575C>T
SPINK5 transcript variant X2 XM_011537551.1:c.1575= XM_011537551.1:c.1575C>A XM_011537551.1:c.1575C>G XM_011537551.1:c.1575C>T
SPINK5 transcript variant X1 XM_047416662.1:c.1602= XM_047416662.1:c.1602C>A XM_047416662.1:c.1602C>G XM_047416662.1:c.1602C>T
SPINK5 transcript variant X3 XM_047416663.1:c.903= XM_047416663.1:c.903C>A XM_047416663.1:c.903C>G XM_047416663.1:c.903C>T
serine protease inhibitor Kazal-type 5 isoform b preproprotein NP_006837.2:p.Val553= NP_006837.2:p.Val553= NP_006837.2:p.Val553= NP_006837.2:p.Val553=
serine protease inhibitor Kazal-type 5 isoform a preproprotein NP_001121170.1:p.Val553= NP_001121170.1:p.Val553= NP_001121170.1:p.Val553= NP_001121170.1:p.Val553=
serine protease inhibitor Kazal-type 5 isoform c preproprotein NP_001121171.1:p.Val553= NP_001121171.1:p.Val553= NP_001121171.1:p.Val553= NP_001121171.1:p.Val553=
serine protease inhibitor Kazal-type 5 isoform X2 XP_011535853.1:p.Val525= XP_011535853.1:p.Val525= XP_011535853.1:p.Val525= XP_011535853.1:p.Val525=
serine protease inhibitor Kazal-type 5 isoform X1 XP_047272618.1:p.Val534= XP_047272618.1:p.Val534= XP_047272618.1:p.Val534= XP_047272618.1:p.Val534=
serine protease inhibitor Kazal-type 5 isoform X3 XP_047272619.1:p.Val301= XP_047272619.1:p.Val301= XP_047272619.1:p.Val301= XP_047272619.1:p.Val301=
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#.

136 SubSNP, 26 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3249527 Sep 28, 2001 (100)
2 WI_SSAHASNP ss11743447 Jul 11, 2003 (116)
3 WI_SSAHASNP ss14641103 Dec 05, 2003 (119)
4 PERLEGEN ss24194744 Sep 20, 2004 (123)
5 ABI ss42608603 Mar 13, 2006 (126)
6 APPLERA_GI ss48428100 Mar 13, 2006 (126)
7 ILLUMINA ss65738175 Oct 16, 2006 (127)
8 ILLUMINA ss74899039 Dec 07, 2007 (129)
9 HGSV ss84352813 Dec 16, 2007 (130)
10 BCMHGSC_JDW ss93284427 Mar 24, 2008 (129)
11 HUMANGENOME_JCVI ss98774503 Feb 06, 2009 (130)
12 1000GENOMES ss109498557 Jan 24, 2009 (130)
13 1000GENOMES ss113421567 Jan 25, 2009 (130)
14 ILLUMINA-UK ss116851634 Feb 14, 2009 (130)
15 KRIBB_YJKIM ss119430125 Dec 01, 2009 (131)
16 ENSEMBL ss143516135 Dec 01, 2009 (131)
17 ENSEMBL ss144232557 Dec 01, 2009 (131)
18 GMI ss156146893 Dec 01, 2009 (131)
19 SEATTLESEQ ss159710464 Dec 01, 2009 (131)
20 ILLUMINA ss160533852 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss162752236 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss165959413 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss167202664 Jul 04, 2010 (132)
24 ILLUMINA ss173276547 Jul 04, 2010 (132)
25 BUSHMAN ss200999680 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss206857886 Jul 04, 2010 (132)
27 1000GENOMES ss222025538 Jul 14, 2010 (132)
28 1000GENOMES ss233190434 Jul 14, 2010 (132)
29 1000GENOMES ss240303929 Jul 15, 2010 (132)
30 BL ss253874148 May 09, 2011 (134)
31 GMI ss278522546 May 04, 2012 (137)
32 PJP ss293489236 May 09, 2011 (134)
33 ILLUMINA ss480523393 May 04, 2012 (137)
34 ILLUMINA ss480539047 May 04, 2012 (137)
35 ILLUMINA ss481349813 Sep 08, 2015 (146)
36 ILLUMINA ss485058972 May 04, 2012 (137)
37 1000GENOMES ss490913224 May 04, 2012 (137)
38 CLINSEQ_SNP ss491875475 May 04, 2012 (137)
39 ILLUMINA ss537074940 Sep 08, 2015 (146)
40 TISHKOFF ss558782331 Apr 25, 2013 (138)
41 SSMP ss652685506 Apr 25, 2013 (138)
42 NHLBI-ESP ss712668480 Apr 25, 2013 (138)
43 ILLUMINA ss778491561 Sep 08, 2015 (146)
44 ILLUMINA ss782975715 Sep 08, 2015 (146)
45 ILLUMINA ss783936916 Sep 08, 2015 (146)
46 ILLUMINA ss832232147 Sep 08, 2015 (146)
47 ILLUMINA ss833947568 Sep 08, 2015 (146)
48 EVA-GONL ss982239248 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1067472432 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1073126398 Aug 21, 2014 (142)
51 1000GENOMES ss1317673382 Aug 21, 2014 (142)
52 DDI ss1430533871 Apr 01, 2015 (144)
53 EVA_GENOME_DK ss1581394167 Apr 01, 2015 (144)
54 EVA_FINRISK ss1584041794 Apr 01, 2015 (144)
55 EVA_DECODE ss1591771526 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1614257237 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1657251270 Apr 01, 2015 (144)
58 EVA_EXAC ss1688026701 Apr 01, 2015 (144)
59 EVA_MGP ss1711101594 Apr 01, 2015 (144)
60 EVA_SVP ss1712808713 Apr 01, 2015 (144)
61 ILLUMINA ss1752554963 Sep 08, 2015 (146)
62 HAMMER_LAB ss1804129502 Sep 08, 2015 (146)
63 WEILL_CORNELL_DGM ss1925493361 Feb 12, 2016 (147)
64 GENOMED ss1970233056 Jul 19, 2016 (147)
65 JJLAB ss2023353579 Sep 14, 2016 (149)
66 USC_VALOUEV ss2151512120 Dec 20, 2016 (150)
67 HUMAN_LONGEVITY ss2279115670 Dec 20, 2016 (150)
68 SYSTEMSBIOZJU ss2626164729 Nov 08, 2017 (151)
69 ILLUMINA ss2634353918 Nov 08, 2017 (151)
70 GRF ss2707080937 Nov 08, 2017 (151)
71 GNOMAD ss2735336282 Nov 08, 2017 (151)
72 GNOMAD ss2747483633 Nov 08, 2017 (151)
73 GNOMAD ss2832090512 Nov 08, 2017 (151)
74 SWEGEN ss2997974232 Nov 08, 2017 (151)
75 EVA_SAMSUNG_MC ss3023061564 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3025458725 Nov 08, 2017 (151)
77 CSHL ss3346676257 Nov 08, 2017 (151)
78 ILLUMINA ss3629366511 Oct 12, 2018 (152)
79 ILLUMINA ss3632277077 Oct 12, 2018 (152)
80 ILLUMINA ss3633393607 Oct 12, 2018 (152)
81 ILLUMINA ss3634114962 Oct 12, 2018 (152)
82 ILLUMINA ss3635027699 Oct 12, 2018 (152)
83 ILLUMINA ss3635796611 Oct 12, 2018 (152)
84 ILLUMINA ss3636740850 Oct 12, 2018 (152)
85 ILLUMINA ss3637549267 Oct 12, 2018 (152)
86 ILLUMINA ss3638587305 Oct 12, 2018 (152)
87 ILLUMINA ss3640734993 Oct 12, 2018 (152)
88 ILLUMINA ss3643530818 Oct 12, 2018 (152)
89 OMUKHERJEE_ADBS ss3646326137 Oct 12, 2018 (152)
90 URBANLAB ss3648193288 Oct 12, 2018 (152)
91 EGCUT_WGS ss3665894199 Jul 13, 2019 (153)
92 EVA_DECODE ss3715921157 Jul 13, 2019 (153)
93 ACPOP ss3732911864 Jul 13, 2019 (153)
94 ILLUMINA ss3745327875 Jul 13, 2019 (153)
95 EVA ss3764201146 Jul 13, 2019 (153)
96 ILLUMINA ss3772821833 Jul 13, 2019 (153)
97 KHV_HUMAN_GENOMES ss3807369930 Jul 13, 2019 (153)
98 EVA ss3824127037 Apr 26, 2020 (154)
99 EVA ss3825522815 Apr 26, 2020 (154)
100 EVA ss3825538907 Apr 26, 2020 (154)
101 EVA ss3825682802 Apr 26, 2020 (154)
102 EVA ss3829558902 Apr 26, 2020 (154)
103 EVA ss3838253869 Apr 26, 2020 (154)
104 EVA ss3843696879 Apr 26, 2020 (154)
105 SGDP_PRJ ss3863208890 Apr 26, 2020 (154)
106 KRGDB ss3909883547 Apr 26, 2020 (154)
107 KOGIC ss3957863020 Apr 26, 2020 (154)
108 FSA-LAB ss3984319365 Apr 26, 2021 (155)
109 FSA-LAB ss3984319366 Apr 26, 2021 (155)
110 EVA ss3986323714 Apr 26, 2021 (155)
111 TOPMED ss4682731596 Apr 26, 2021 (155)
112 TOMMO_GENOMICS ss5174660441 Apr 26, 2021 (155)
113 EVA ss5237016972 Apr 26, 2021 (155)
114 EVA ss5237644475 Oct 13, 2022 (156)
115 1000G_HIGH_COVERAGE ss5266243170 Oct 13, 2022 (156)
116 EVA ss5315093907 Oct 13, 2022 (156)
117 EVA ss5361698687 Oct 13, 2022 (156)
118 HUGCELL_USP ss5464167111 Oct 13, 2022 (156)
119 EVA ss5508251588 Oct 13, 2022 (156)
120 1000G_HIGH_COVERAGE ss5551098200 Oct 13, 2022 (156)
121 EVA ss5623933605 Oct 13, 2022 (156)
122 EVA ss5624151275 Oct 13, 2022 (156)
123 SANFORD_IMAGENETICS ss5639106476 Oct 13, 2022 (156)
124 TOMMO_GENOMICS ss5711890145 Oct 13, 2022 (156)
125 EVA ss5799665239 Oct 13, 2022 (156)
126 EVA ss5800054604 Oct 13, 2022 (156)
127 EVA ss5800124744 Oct 13, 2022 (156)
128 YY_MCH ss5806861268 Oct 13, 2022 (156)
129 EVA ss5835795746 Oct 13, 2022 (156)
130 EVA ss5848637591 Oct 13, 2022 (156)
131 EVA ss5855061704 Oct 13, 2022 (156)
132 EVA ss5896786001 Oct 13, 2022 (156)
133 EVA ss5936528377 Oct 13, 2022 (156)
134 EVA ss5967585447 Oct 13, 2022 (156)
135 EVA ss5980322247 Oct 13, 2022 (156)
136 EVA ss5981231037 Oct 13, 2022 (156)
137 1000Genomes NC_000005.9 - 147488367 Oct 12, 2018 (152)
138 1000Genomes_30x NC_000005.10 - 148108804 Oct 13, 2022 (156)
139 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 147488367 Oct 12, 2018 (152)
140 Genetic variation in the Estonian population NC_000005.9 - 147488367 Oct 12, 2018 (152)
141 ExAC NC_000005.9 - 147488367 Oct 12, 2018 (152)
142 FINRISK NC_000005.9 - 147488367 Apr 26, 2020 (154)
143 The Danish reference pan genome NC_000005.9 - 147488367 Apr 26, 2020 (154)
144 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 207741047 (NC_000005.10:148108803:C:A 1/139944)
Row 207741048 (NC_000005.10:148108803:C:T 84525/139880)

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

Submission ignored due to conflicting rows:
Row 207741047 (NC_000005.10:148108803:C:A 1/139944)
Row 207741048 (NC_000005.10:148108803:C:T 84525/139880)

- Apr 26, 2021 (155)
146 gnomAD - Exomes NC_000005.9 - 147488367 Jul 13, 2019 (153)
147 GO Exome Sequencing Project NC_000005.9 - 147488367 Oct 12, 2018 (152)
148 Genome of the Netherlands Release 5 NC_000005.9 - 147488367 Apr 26, 2020 (154)
149 HapMap NC_000005.10 - 148108804 Apr 26, 2020 (154)
150 KOREAN population from KRGDB NC_000005.9 - 147488367 Apr 26, 2020 (154)
151 Korean Genome Project NC_000005.10 - 148108804 Apr 26, 2020 (154)
152 Medical Genome Project healthy controls from Spanish population NC_000005.9 - 147488367 Apr 26, 2020 (154)
153 Northern Sweden NC_000005.9 - 147488367 Jul 13, 2019 (153)
154 Qatari NC_000005.9 - 147488367 Apr 26, 2020 (154)
155 SGDP_PRJ NC_000005.9 - 147488367 Apr 26, 2020 (154)
156 Siberian NC_000005.9 - 147488367 Apr 26, 2020 (154)
157 8.3KJPN NC_000005.9 - 147488367 Apr 26, 2021 (155)
158 14KJPN NC_000005.10 - 148108804 Oct 13, 2022 (156)
159 TopMed NC_000005.10 - 148108804 Apr 26, 2021 (155)
160 UK 10K study - Twins NC_000005.9 - 147488367 Oct 12, 2018 (152)
161 A Vietnamese Genetic Variation Database NC_000005.9 - 147488367 Jul 13, 2019 (153)
162 ALFA NC_000005.10 - 148108804 Apr 26, 2021 (155)
163 ClinVar RCV000175321.6 Oct 13, 2022 (156)
164 ClinVar RCV000345642.8 Oct 13, 2022 (156)
165 ClinVar RCV001711971.2 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)
rs17775415 Oct 08, 2004 (123)
rs61353655 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3725599898 NC_000005.10:148108803:C:A NC_000005.10:148108803:C:A (self)
ss2747483633, ss2832090512 NC_000005.9:147488366:C:G NC_000005.10:148108803:C:G (self)
ss84352813, ss93284427, ss109498557, ss113421567, ss116851634, ss162752236, ss165959413, ss167202664, ss200999680, ss206857886, ss253874148, ss278522546, ss293489236, ss480523393, ss491875475, ss1591771526, ss1712808713, ss3643530818 NC_000005.8:147468559:C:T NC_000005.10:148108803:C:T (self)
29368108, 16339958, 11632447, 8035566, 38255, 7559106, 4467209, 585131, 7255194, 17060941, 217354, 6196729, 7535291, 15225870, 4028474, 32629748, 16339958, 3621155, ss222025538, ss233190434, ss240303929, ss480539047, ss481349813, ss485058972, ss490913224, ss537074940, ss558782331, ss652685506, ss712668480, ss778491561, ss782975715, ss783936916, ss832232147, ss833947568, ss982239248, ss1067472432, ss1073126398, ss1317673382, ss1430533871, ss1581394167, ss1584041794, ss1614257237, ss1657251270, ss1688026701, ss1711101594, ss1752554963, ss1804129502, ss1925493361, ss1970233056, ss2023353579, ss2151512120, ss2626164729, ss2634353918, ss2707080937, ss2735336282, ss2747483633, ss2832090512, ss2997974232, ss3023061564, ss3346676257, ss3629366511, ss3632277077, ss3633393607, ss3634114962, ss3635027699, ss3635796611, ss3636740850, ss3637549267, ss3638587305, ss3640734993, ss3646326137, ss3665894199, ss3732911864, ss3745327875, ss3764201146, ss3772821833, ss3824127037, ss3825522815, ss3825538907, ss3825682802, ss3829558902, ss3838253869, ss3863208890, ss3909883547, ss3984319365, ss3984319366, ss3986323714, ss5174660441, ss5315093907, ss5361698687, ss5508251588, ss5623933605, ss5624151275, ss5639106476, ss5799665239, ss5800054604, ss5800124744, ss5835795746, ss5848637591, ss5936528377, ss5967585447, ss5980322247, ss5981231037 NC_000005.9:147488366:C:T NC_000005.10:148108803:C:T (self)
RCV000175321.6, RCV000345642.8, RCV001711971.2, 38624135, 2991041, 14241021, 45727249, 520109153, 3725599898, ss2279115670, ss3025458725, ss3648193288, ss3715921157, ss3807369930, ss3843696879, ss3957863020, ss4682731596, ss5237016972, ss5237644475, ss5266243170, ss5464167111, ss5551098200, ss5711890145, ss5806861268, ss5855061704, ss5896786001 NC_000005.10:148108803:C:T NC_000005.10:148108803:C:T (self)
ss11743447 NT_029289.9:8651303:C:T NC_000005.10:148108803:C:T (self)
ss14641103 NT_029289.10:8651302:C:T NC_000005.10:148108803:C:T (self)
ss3249527, ss24194744, ss42608603, ss48428100, ss65738175, ss74899039, ss98774503, ss119430125, ss143516135, ss144232557, ss156146893, ss159710464, ss160533852, ss173276547 NT_029289.11:8651293:C:T NC_000005.10:148108803: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.

2 citations for rs2303071
PMID Title Author Year Journal
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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