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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.

rs62639695

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:6469128 (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
T=0.098406 (26047/264690, TOPMED)
T=0.074051 (17956/242482, GnomAD_exome)
T=0.101718 (13567/133378, GnomAD) (+ 15 more)
T=0.079378 (9168/115498, ExAC)
T=0.07587 (2792/36798, ALFA)
T=0.01193 (337/28256, 14KJPN)
T=0.01163 (195/16760, 8.3KJPN)
T=0.12533 (1630/13006, GO-ESP)
T=0.1200 (601/5008, 1000G)
T=0.0716 (276/3854, ALSPAC)
T=0.0758 (281/3708, TWINSUK)
T=0.0127 (37/2916, KOREAN)
T=0.088 (88/998, GoNL)
T=0.072 (43/600, NorthernSweden)
T=0.064 (34/534, MGP)
T=0.153 (33/216, Qatari)
C=0.45 (34/76, SGDP_PRJ)
C=0.2 (1/4, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PLEKHG5 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 52420 C=0.91475 A=0.00000, T=0.08525
European Sub 35932 C=0.92647 A=0.00000, T=0.07353
African Sub 7404 C=0.8236 A=0.0000, T=0.1764
African Others Sub 272 C=0.772 A=0.000, T=0.228
African American Sub 7132 C=0.8256 A=0.0000, T=0.1744
Asian Sub 400 C=0.993 A=0.000, T=0.007
East Asian Sub 342 C=0.991 A=0.000, T=0.009
Other Asian Sub 58 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 238 C=0.874 A=0.000, T=0.126
Latin American 2 Sub 4820 C=0.9624 A=0.0000, T=0.0376
South Asian Sub 116 C=0.948 A=0.000, T=0.052
Other Sub 3510 C=0.9142 A=0.0000, T=0.0858


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=0.901594 T=0.098406
gnomAD - Exomes Global Study-wide 242482 C=0.925949 T=0.074051
gnomAD - Exomes European Sub 130586 C=0.918858 T=0.081142
gnomAD - Exomes Asian Sub 48246 C=0.95125 T=0.04875
gnomAD - Exomes American Sub 33718 C=0.95972 T=0.04028
gnomAD - Exomes African Sub 13942 C=0.81896 T=0.18104
gnomAD - Exomes Ashkenazi Jewish Sub 9970 C=0.9337 T=0.0663
gnomAD - Exomes Other Sub 6020 C=0.9228 T=0.0772
gnomAD - Genomes Global Study-wide 133378 C=0.898282 T=0.101718
gnomAD - Genomes European Sub 74672 C=0.91871 T=0.08129
gnomAD - Genomes African Sub 36926 C=0.83142 T=0.16858
gnomAD - Genomes American Sub 13340 C=0.93313 T=0.06687
gnomAD - Genomes Ashkenazi Jewish Sub 3298 C=0.9391 T=0.0609
gnomAD - Genomes East Asian Sub 3078 C=0.9977 T=0.0023
gnomAD - Genomes Other Sub 2064 C=0.9167 T=0.0833
ExAC Global Study-wide 115498 C=0.920622 T=0.079378
ExAC Europe Sub 70812 C=0.91993 T=0.08007
ExAC Asian Sub 24328 C=0.94767 T=0.05233
ExAC American Sub 11222 C=0.95847 T=0.04153
ExAC African Sub 8282 C=0.7972 T=0.2028
ExAC Other Sub 854 C=0.907 T=0.093
Allele Frequency Aggregator Total Global 36798 C=0.92413 A=0.00000, T=0.07587
Allele Frequency Aggregator European Sub 25960 C=0.92747 A=0.00000, T=0.07253
Allele Frequency Aggregator Latin American 2 Sub 4820 C=0.9624 A=0.0000, T=0.0376
Allele Frequency Aggregator African Sub 3142 C=0.8355 A=0.0000, T=0.1645
Allele Frequency Aggregator Other Sub 2122 C=0.9189 A=0.0000, T=0.0811
Allele Frequency Aggregator Asian Sub 400 C=0.993 A=0.000, T=0.007
Allele Frequency Aggregator Latin American 1 Sub 238 C=0.874 A=0.000, T=0.126
Allele Frequency Aggregator South Asian Sub 116 C=0.948 A=0.000, T=0.052
14KJPN JAPANESE Study-wide 28256 C=0.98807 T=0.01193
8.3KJPN JAPANESE Study-wide 16760 C=0.98837 T=0.01163
GO Exome Sequencing Project Global Study-wide 13006 C=0.87467 T=0.12533
GO Exome Sequencing Project European American Sub 8600 C=0.9230 T=0.0770
GO Exome Sequencing Project African American Sub 4406 C=0.7803 T=0.2197
1000Genomes Global Study-wide 5008 C=0.8800 T=0.1200
1000Genomes African Sub 1322 C=0.7118 T=0.2882
1000Genomes East Asian Sub 1008 C=0.9911 T=0.0089
1000Genomes Europe Sub 1006 C=0.9225 T=0.0775
1000Genomes South Asian Sub 978 C=0.917 T=0.083
1000Genomes American Sub 694 C=0.925 T=0.075
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9284 T=0.0716
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9242 T=0.0758
KOREAN population from KRGDB KOREAN Study-wide 2916 C=0.9873 T=0.0127
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.912 T=0.088
Northern Sweden ACPOP Study-wide 600 C=0.928 T=0.072
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.936 T=0.064
Qatari Global Study-wide 216 C=0.847 T=0.153
SGDP_PRJ Global Study-wide 76 C=0.45 T=0.55
Siberian Global Study-wide 4 C=0.2 T=0.8
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 1 NC_000001.11:g.6469128C>A
GRCh38.p14 chr 1 NC_000001.11:g.6469128C>T
GRCh37.p13 chr 1 NC_000001.10:g.6529188C>A
GRCh37.p13 chr 1 NC_000001.10:g.6529188C>T
PLEKHG5 RefSeqGene (LRG_262) NG_007978.1:g.55882G>T
PLEKHG5 RefSeqGene (LRG_262) NG_007978.1:g.55882G>A
TNFRSF25 RefSeqGene NG_029910.1:g.2068G>T
TNFRSF25 RefSeqGene NG_029910.1:g.2068G>A
Gene: PLEKHG5, pleckstrin homology and RhoGEF domain containing G5 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PLEKHG5 transcript variant 4 NM_001042664.1:c.2163G>T E [GAG] > D [GAT] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform a NP_001036129.1:p.Glu721Asp E (Glu) > D (Asp) Missense Variant
PLEKHG5 transcript variant 4 NM_001042664.1:c.2163G>A E [GAG] > E [GAA] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform a NP_001036129.1:p.Glu721= E (Glu) > E (Glu) Synonymous Variant
PLEKHG5 transcript variant 5 NM_001042665.1:c.2163G>T E [GAG] > D [GAT] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform a NP_001036130.1:p.Glu721Asp E (Glu) > D (Asp) Missense Variant
PLEKHG5 transcript variant 5 NM_001042665.1:c.2163G>A E [GAG] > E [GAA] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform a NP_001036130.1:p.Glu721= E (Glu) > E (Glu) Synonymous Variant
PLEKHG5 transcript variant 7 NM_001265593.1:c.2370G>T E [GAG] > D [GAT] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform e NP_001252522.1:p.Glu790Asp E (Glu) > D (Asp) Missense Variant
PLEKHG5 transcript variant 7 NM_001265593.1:c.2370G>A E [GAG] > E [GAA] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform e NP_001252522.1:p.Glu790= E (Glu) > E (Glu) Synonymous Variant
PLEKHG5 transcript variant 8 NM_001265594.2:c.2163G>T E [GAG] > D [GAT] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform f NP_001252523.1:p.Glu721Asp E (Glu) > D (Asp) Missense Variant
PLEKHG5 transcript variant 8 NM_001265594.2:c.2163G>A E [GAG] > E [GAA] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform f NP_001252523.1:p.Glu721= E (Glu) > E (Glu) Synonymous Variant
PLEKHG5 transcript variant 1 NM_020631.6:c.2163G>T E [GAG] > D [GAT] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform a NP_065682.2:p.Glu721Asp E (Glu) > D (Asp) Missense Variant
PLEKHG5 transcript variant 1 NM_020631.6:c.2163G>A E [GAG] > E [GAA] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform a NP_065682.2:p.Glu721= E (Glu) > E (Glu) Synonymous Variant
PLEKHG5 transcript variant 2 NM_198681.4:c.2163G>T E [GAG] > D [GAT] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform a NP_941374.3:p.Glu721Asp E (Glu) > D (Asp) Missense Variant
PLEKHG5 transcript variant 2 NM_198681.4:c.2163G>A E [GAG] > E [GAA] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform a NP_941374.3:p.Glu721= E (Glu) > E (Glu) Synonymous Variant
PLEKHG5 transcript variant 3 NM_001042663.3:c.2274G>T E [GAG] > D [GAT] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform c NP_001036128.2:p.Glu758Asp E (Glu) > D (Asp) Missense Variant
PLEKHG5 transcript variant 3 NM_001042663.3:c.2274G>A E [GAG] > E [GAA] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform c NP_001036128.2:p.Glu758= E (Glu) > E (Glu) Synonymous Variant
PLEKHG5 transcript variant 6 NM_001265592.2:c.2274G>T E [GAG] > D [GAT] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform c NP_001252521.2:p.Glu758Asp E (Glu) > D (Asp) Missense Variant
PLEKHG5 transcript variant 6 NM_001265592.2:c.2274G>A E [GAG] > E [GAA] Coding Sequence Variant
pleckstrin homology domain-containing family G member 5 isoform c NP_001252521.2:p.Glu758= E (Glu) > E (Glu) 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: A (allele ID: 824361 )
ClinVar Accession Disease Names Clinical Significance
RCV001058587.1 Autosomal recessive lower motor neuron disease with childhood onset,Charcot-Marie-Tooth disease recessive intermediate C Uncertain-Significance
Allele: T (allele ID: 192140 )
ClinVar Accession Disease Names Clinical Significance
RCV000175471.4 not specified Benign
RCV000294433.3 Autosomal recessive lower motor neuron disease with childhood onset Benign
RCV001510752.4 Autosomal recessive lower motor neuron disease with childhood onset,Charcot-Marie-Tooth disease recessive intermediate C Benign
RCV001618330.3 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 T
GRCh38.p14 chr 1 NC_000001.11:g.6469128= NC_000001.11:g.6469128C>A NC_000001.11:g.6469128C>T
GRCh37.p13 chr 1 NC_000001.10:g.6529188= NC_000001.10:g.6529188C>A NC_000001.10:g.6529188C>T
PLEKHG5 RefSeqGene (LRG_262) NG_007978.1:g.55882= NG_007978.1:g.55882G>T NG_007978.1:g.55882G>A
PLEKHG5 transcript variant 1 NM_020631.6:c.2163= NM_020631.6:c.2163G>T NM_020631.6:c.2163G>A
PLEKHG5 transcript variant 1 NM_020631.5:c.2163= NM_020631.5:c.2163G>T NM_020631.5:c.2163G>A
PLEKHG5 transcript variant 1 NM_020631.4:c.2163= NM_020631.4:c.2163G>T NM_020631.4:c.2163G>A
PLEKHG5 transcript variant 2 NM_198681.4:c.2163= NM_198681.4:c.2163G>T NM_198681.4:c.2163G>A
PLEKHG5 transcript variant 2 NM_198681.3:c.2394= NM_198681.3:c.2394G>T NM_198681.3:c.2394G>A
PLEKHG5 transcript variant 3 NM_001042663.3:c.2274= NM_001042663.3:c.2274G>T NM_001042663.3:c.2274G>A
PLEKHG5 transcript variant 3 NM_001042663.2:c.2331= NM_001042663.2:c.2331G>T NM_001042663.2:c.2331G>A
PLEKHG5 transcript variant 3 NM_001042663.1:c.2331= NM_001042663.1:c.2331G>T NM_001042663.1:c.2331G>A
PLEKHG5 transcript variant 8 NM_001265594.2:c.2163= NM_001265594.2:c.2163G>T NM_001265594.2:c.2163G>A
PLEKHG5 transcript variant 8 NM_001265594.1:c.2163= NM_001265594.1:c.2163G>T NM_001265594.1:c.2163G>A
PLEKHG5 transcript variant 6 NM_001265592.2:c.2274= NM_001265592.2:c.2274G>T NM_001265592.2:c.2274G>A
PLEKHG5 transcript variant 6 NM_001265592.1:c.2400= NM_001265592.1:c.2400G>T NM_001265592.1:c.2400G>A
PLEKHG5 transcript variant 7 NM_001265593.1:c.2370= NM_001265593.1:c.2370G>T NM_001265593.1:c.2370G>A
PLEKHG5 transcript variant 4 NM_001042664.1:c.2163= NM_001042664.1:c.2163G>T NM_001042664.1:c.2163G>A
PLEKHG5 transcript variant 5 NM_001042665.1:c.2163= NM_001042665.1:c.2163G>T NM_001042665.1:c.2163G>A
TNFRSF25 RefSeqGene NG_029910.1:g.2068= NG_029910.1:g.2068G>T NG_029910.1:g.2068G>A
pleckstrin homology domain-containing family G member 5 isoform a NP_065682.2:p.Glu721= NP_065682.2:p.Glu721Asp NP_065682.2:p.Glu721=
pleckstrin homology domain-containing family G member 5 isoform a NP_941374.3:p.Glu721= NP_941374.3:p.Glu721Asp NP_941374.3:p.Glu721=
pleckstrin homology domain-containing family G member 5 isoform c NP_001036128.2:p.Glu758= NP_001036128.2:p.Glu758Asp NP_001036128.2:p.Glu758=
pleckstrin homology domain-containing family G member 5 isoform f NP_001252523.1:p.Glu721= NP_001252523.1:p.Glu721Asp NP_001252523.1:p.Glu721=
pleckstrin homology domain-containing family G member 5 isoform c NP_001252521.2:p.Glu758= NP_001252521.2:p.Glu758Asp NP_001252521.2:p.Glu758=
pleckstrin homology domain-containing family G member 5 isoform e NP_001252522.1:p.Glu790= NP_001252522.1:p.Glu790Asp NP_001252522.1:p.Glu790=
pleckstrin homology domain-containing family G member 5 isoform a NP_001036129.1:p.Glu721= NP_001036129.1:p.Glu721Asp NP_001036129.1:p.Glu721=
pleckstrin homology domain-containing family G member 5 isoform a NP_001036130.1:p.Glu721= NP_001036130.1:p.Glu721Asp NP_001036130.1:p.Glu721=
pleckstrin homology domain-containing family G member 5 isoform c NP_001036128.1:p.Glu777= NP_001036128.1:p.Glu777Asp NP_001036128.1:p.Glu777=
pleckstrin homology domain-containing family G member 5 isoform d NP_001252521.1:p.Glu800= NP_001252521.1:p.Glu800Asp NP_001252521.1:p.Glu800=
pleckstrin homology domain-containing family G member 5 isoform b NP_941374.2:p.Glu798= NP_941374.2:p.Glu798Asp NP_941374.2:p.Glu798=
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#.

51 SubSNP, 18 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CORNELL ss86266924 Mar 25, 2008 (129)
2 SEATTLESEQ ss159695904 Dec 01, 2009 (131)
3 ILLUMINA ss159848603 Dec 01, 2009 (131)
4 ILLUMINA ss168871945 Jul 04, 2010 (132)
5 BUSHMAN ss197965814 Jul 04, 2010 (132)
6 BCM-HGSC-SUB ss205449672 Jul 04, 2010 (132)
7 1000GENOMES ss453859138 Sep 17, 2011 (135)
8 ILLUMINA ss479154516 Sep 08, 2015 (146)
9 1000GENOMES ss489717735 May 04, 2012 (137)
10 ILLUMINA ss532729563 Sep 08, 2015 (146)
11 TISHKOFF ss553757248 Apr 25, 2013 (138)
12 NHLBI-ESP ss712269374 Apr 25, 2013 (138)
13 EVA-GONL ss974820758 Aug 21, 2014 (142)
14 1000GENOMES ss1289542784 Aug 21, 2014 (142)
15 DDI ss1425701822 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1599475947 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1642469980 Apr 01, 2015 (144)
18 EVA_MGP ss1710886373 Apr 01, 2015 (144)
19 HAMMER_LAB ss1793837157 Sep 08, 2015 (146)
20 WEILL_CORNELL_DGM ss1918018252 Feb 12, 2016 (147)
21 JJLAB ss2019524965 Sep 14, 2016 (149)
22 USC_VALOUEV ss2147518288 Dec 20, 2016 (150)
23 HUMAN_LONGEVITY ss2159755445 Dec 20, 2016 (150)
24 GRF ss2697413671 Nov 08, 2017 (151)
25 CSHL ss3343301965 Nov 08, 2017 (151)
26 ILLUMINA ss3626017911 Oct 11, 2018 (152)
27 ILLUMINA ss3635981180 Oct 11, 2018 (152)
28 ILLUMINA ss3637735210 Oct 11, 2018 (152)
29 OMUKHERJEE_ADBS ss3646220540 Oct 11, 2018 (152)
30 EVA_DECODE ss3686092797 Jul 12, 2019 (153)
31 ACPOP ss3726760622 Jul 12, 2019 (153)
32 EVA ss3745786345 Jul 12, 2019 (153)
33 KHV_HUMAN_GENOMES ss3798806792 Jul 12, 2019 (153)
34 EVA ss3823553192 Apr 25, 2020 (154)
35 EVA ss3826006697 Apr 25, 2020 (154)
36 SGDP_PRJ ss3848120457 Apr 25, 2020 (154)
37 KRGDB ss3892987978 Apr 25, 2020 (154)
38 FSA-LAB ss3983913921 Apr 25, 2021 (155)
39 FSA-LAB ss3983913922 Apr 25, 2021 (155)
40 GNOMAD ss3987720199 Apr 25, 2021 (155)
41 TOPMED ss4438025448 Apr 25, 2021 (155)
42 TOMMO_GENOMICS ss5142303961 Apr 25, 2021 (155)
43 1000G_HIGH_COVERAGE ss5241048301 Oct 17, 2022 (156)
44 EVA ss5316521718 Oct 17, 2022 (156)
45 HUGCELL_USP ss5442265072 Oct 17, 2022 (156)
46 EVA ss5623986784 Oct 17, 2022 (156)
47 TOMMO_GENOMICS ss5666550456 Oct 17, 2022 (156)
48 EVA ss5848246380 Oct 17, 2022 (156)
49 EVA ss5906902732 Oct 17, 2022 (156)
50 EVA ss5936681372 Oct 17, 2022 (156)
51 EVA ss5979930508 Oct 17, 2022 (156)
52 1000Genomes NC_000001.10 - 6529188 Oct 11, 2018 (152)
53 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 6529188 Oct 11, 2018 (152)
54 ExAC NC_000001.10 - 6529188 Oct 11, 2018 (152)
55 gnomAD - Genomes NC_000001.11 - 6469128 Apr 25, 2021 (155)
56 gnomAD - Exomes NC_000001.10 - 6529188 Jul 12, 2019 (153)
57 GO Exome Sequencing Project NC_000001.10 - 6529188 Oct 11, 2018 (152)
58 Genome of the Netherlands Release 5 NC_000001.10 - 6529188 Apr 25, 2020 (154)
59 KOREAN population from KRGDB NC_000001.10 - 6529188 Apr 25, 2020 (154)
60 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 6529188 Apr 25, 2020 (154)
61 Northern Sweden NC_000001.10 - 6529188 Jul 12, 2019 (153)
62 Qatari NC_000001.10 - 6529188 Apr 25, 2020 (154)
63 SGDP_PRJ NC_000001.10 - 6529188 Apr 25, 2020 (154)
64 Siberian NC_000001.10 - 6529188 Apr 25, 2020 (154)
65 8.3KJPN NC_000001.10 - 6529188 Apr 25, 2021 (155)
66 14KJPN NC_000001.11 - 6469128 Oct 17, 2022 (156)
67 TopMed NC_000001.11 - 6469128 Apr 25, 2021 (155)
68 UK 10K study - Twins NC_000001.10 - 6529188 Oct 11, 2018 (152)
69 ALFA NC_000001.11 - 6469128 Apr 25, 2021 (155)
70 ClinVar RCV000175471.4 Oct 17, 2022 (156)
71 ClinVar RCV000294433.3 Oct 17, 2022 (156)
72 ClinVar RCV001058587.1 Apr 25, 2021 (155)
73 ClinVar RCV001510752.4 Oct 17, 2022 (156)
74 ClinVar RCV001618330.3 Oct 17, 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
RCV001058587.1, 12907372914, ss2159755445 NC_000001.11:6469127:C:A NC_000001.11:6469127:C:A (self)
ss197965814, ss205449672 NC_000001.9:6451774:C:T NC_000001.11:6469127:C:T (self)
213623, 106328, 4449346, 87884, 11924, 46444, 165372, 3125, 45487, 60182, 137437, 34642, 273268, 106328, ss453859138, ss479154516, ss489717735, ss532729563, ss553757248, ss712269374, ss974820758, ss1289542784, ss1425701822, ss1599475947, ss1642469980, ss1710886373, ss1793837157, ss1918018252, ss2019524965, ss2147518288, ss2697413671, ss3343301965, ss3626017911, ss3635981180, ss3637735210, ss3646220540, ss3726760622, ss3745786345, ss3823553192, ss3826006697, ss3848120457, ss3892987978, ss3983913921, ss3983913922, ss5142303961, ss5316521718, ss5623986784, ss5848246380, ss5936681372, ss5979930508 NC_000001.10:6529187:C:T NC_000001.11:6469127:C:T (self)
RCV000175471.4, RCV000294433.3, RCV001510752.4, RCV001618330.3, 1470520, 387560, 1631783, 12907372914, ss2159755445, ss3686092797, ss3798806792, ss3987720199, ss4438025448, ss5241048301, ss5442265072, ss5666550456, ss5906902732 NC_000001.11:6469127:C:T NC_000001.11:6469127:C:T (self)
ss86266924, ss159695904, ss159848603, ss168871945 NT_021937.19:2533919:C:T NC_000001.11:6469127: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 rs62639695

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