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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.

rs62639980

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:966542 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000903 (97/107432, ALFA)
A=0.01680 (1316/78342, PAGE_STUDY)
A=0.01096 (142/12960, GO-ESP) (+ 6 more)
A=0.0109 (70/6404, 1000G_30x)
A=0.0106 (53/5008, 1000G)
C=0.0071 (32/4480, Estonian)
C=0.003 (2/600, NorthernSweden)
A=0.005 (1/216, Qatari)
A=0.3 (2/6, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PLEKHN1 : 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 Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 107554 G=0.998633 A=0.000465, C=0.000902 0.998213 1.9e-05 0.001768 12
European Sub 89560 G=0.99873 A=0.00031, C=0.00096 0.998078 0.0 0.001922 0
African Sub 3504 G=0.9951 A=0.0034, C=0.0014 0.997701 0.000575 0.001724 32
African Others Sub 118 G=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
African American Sub 3386 G=0.9950 A=0.0035, C=0.0015 0.99762 0.000595 0.001785 32
Asian Sub 3154 G=1.0000 A=0.0000, C=0.0000 1.0 0.0 0.0 N/A
East Asian Sub 1906 G=1.0000 A=0.0000, C=0.0000 1.0 0.0 0.0 N/A
Other Asian Sub 1248 G=1.0000 A=0.0000, C=0.0000 1.0 0.0 0.0 N/A
Latin American 1 Sub 148 G=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 626 G=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
Other Sub 10464 G=0.99847 A=0.00096, C=0.00057 0.998851 0.0 0.001149 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 107432 G=0.998632 A=0.000465, C=0.000903
Allele Frequency Aggregator European Sub 89456 G=0.99873 A=0.00031, C=0.00096
Allele Frequency Aggregator Other Sub 10460 G=0.99847 A=0.00096, C=0.00057
Allele Frequency Aggregator African Sub 3490 G=0.9951 A=0.0034, C=0.0014
Allele Frequency Aggregator Asian Sub 3154 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 626 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 148 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, C=0.00
The PAGE Study Global Study-wide 78342 G=0.98320 A=0.01680
The PAGE Study AfricanAmerican Sub 32212 G=0.96678 A=0.03322
The PAGE Study Mexican Sub 10806 G=0.99713 A=0.00287
The PAGE Study Asian Sub 8298 G=0.9998 A=0.0002
The PAGE Study PuertoRican Sub 7914 G=0.9879 A=0.0121
The PAGE Study NativeHawaiian Sub 4518 G=0.9996 A=0.0004
The PAGE Study Cuban Sub 4224 G=0.9891 A=0.0109
The PAGE Study Dominican Sub 3824 G=0.9888 A=0.0112
The PAGE Study CentralAmerican Sub 2450 G=0.9955 A=0.0045
The PAGE Study SouthAmerican Sub 1982 G=0.9960 A=0.0040
The PAGE Study NativeAmerican Sub 1258 G=0.9944 A=0.0056
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 12960 G=0.98904 A=0.01096
GO Exome Sequencing Project European American Sub 8580 G=0.9995 A=0.0005
GO Exome Sequencing Project African American Sub 4380 G=0.9685 A=0.0315
1000Genomes_30x Global Study-wide 6404 G=0.9880 A=0.0109, C=0.0011
1000Genomes_30x African Sub 1786 G=0.9619 A=0.0381, C=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9968 A=0.0000, C=0.0032
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000, C=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000, C=0.0000
1000Genomes_30x American Sub 980 G=0.995 A=0.002, C=0.003
1000Genomes Global Study-wide 5008 G=0.9882 A=0.0106, C=0.0012
1000Genomes African Sub 1322 G=0.9607 A=0.0393, C=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000, C=0.0000
1000Genomes Europe Sub 1006 G=0.9960 A=0.0000, C=0.0040
1000Genomes South Asian Sub 978 G=1.000 A=0.000, C=0.000
1000Genomes American Sub 694 G=0.996 A=0.001, C=0.003
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9929 C=0.0071
Northern Sweden ACPOP Study-wide 600 G=0.997 C=0.003
Qatari Global Study-wide 216 G=0.995 A=0.005
SGDP_PRJ Global Study-wide 6 G=0.5 A=0.3, C=0.2
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.966542G>A
GRCh38.p14 chr 1 NC_000001.11:g.966542G>C
GRCh37.p13 chr 1 NC_000001.10:g.901922G>A
GRCh37.p13 chr 1 NC_000001.10:g.901922G>C
KLHL17 RefSeqGene NG_027546.1:g.10956G>A
KLHL17 RefSeqGene NG_027546.1:g.10956G>C
Gene: PLEKHN1, pleckstrin homology domain containing N1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PLEKHN1 transcript variant 1 NM_032129.3:c.11G>A S [AGC] > N [AAC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform a NP_115505.2:p.Ser4Asn S (Ser) > N (Asn) Missense Variant
PLEKHN1 transcript variant 1 NM_032129.3:c.11G>C S [AGC] > T [ACC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform a NP_115505.2:p.Ser4Thr S (Ser) > T (Thr) Missense Variant
PLEKHN1 transcript variant 2 NM_001160184.2:c.11G>A S [AGC] > N [AAC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform b NP_001153656.1:p.Ser4Asn S (Ser) > N (Asn) Missense Variant
PLEKHN1 transcript variant 2 NM_001160184.2:c.11G>C S [AGC] > T [ACC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform b NP_001153656.1:p.Ser4Thr S (Ser) > T (Thr) Missense Variant
PLEKHN1 transcript variant 3 NM_001367552.1:c.11G>A S [AGC] > N [AAC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform c NP_001354481.1:p.Ser4Asn S (Ser) > N (Asn) Missense Variant
PLEKHN1 transcript variant 3 NM_001367552.1:c.11G>C S [AGC] > T [ACC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform c NP_001354481.1:p.Ser4Thr S (Ser) > T (Thr) Missense Variant
PLEKHN1 transcript variant X1 XM_011542248.3:c.11G>A S [AGC] > N [AAC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X1 XP_011540550.3:p.Ser4Asn S (Ser) > N (Asn) Missense Variant
PLEKHN1 transcript variant X1 XM_011542248.3:c.11G>C S [AGC] > T [ACC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X1 XP_011540550.3:p.Ser4Thr S (Ser) > T (Thr) Missense Variant
PLEKHN1 transcript variant X1 XM_017002475.2:c.11G>A S [AGC] > N [AAC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X1 XP_016857964.2:p.Ser4Asn S (Ser) > N (Asn) Missense Variant
PLEKHN1 transcript variant X1 XM_017002475.2:c.11G>C S [AGC] > T [ACC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X1 XP_016857964.2:p.Ser4Thr S (Ser) > T (Thr) Missense Variant
PLEKHN1 transcript variant X2 XM_047431794.1:c.11G>A S [AGC] > N [AAC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X2 XP_047287750.1:p.Ser4Asn S (Ser) > N (Asn) Missense Variant
PLEKHN1 transcript variant X2 XM_047431794.1:c.11G>C S [AGC] > T [ACC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X2 XP_047287750.1:p.Ser4Thr S (Ser) > T (Thr) Missense Variant
PLEKHN1 transcript variant X3 XM_017002474.2:c.11G>A S [AGC] > N [AAC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X3 XP_016857963.2:p.Ser4Asn S (Ser) > N (Asn) Missense Variant
PLEKHN1 transcript variant X3 XM_017002474.2:c.11G>C S [AGC] > T [ACC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X3 XP_016857963.2:p.Ser4Thr S (Ser) > T (Thr) Missense Variant
PLEKHN1 transcript variant X4 XM_047431795.1:c.11G>A S [AGC] > N [AAC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X4 XP_047287751.1:p.Ser4Asn S (Ser) > N (Asn) Missense Variant
PLEKHN1 transcript variant X4 XM_047431795.1:c.11G>C S [AGC] > T [ACC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X4 XP_047287751.1:p.Ser4Thr S (Ser) > T (Thr) Missense Variant
PLEKHN1 transcript variant X5 XM_017002478.3:c.11G>A S [AGC] > N [AAC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X5 XP_016857967.2:p.Ser4Asn S (Ser) > N (Asn) Missense Variant
PLEKHN1 transcript variant X5 XM_017002478.3:c.11G>C S [AGC] > T [ACC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X5 XP_016857967.2:p.Ser4Thr S (Ser) > T (Thr) Missense Variant
PLEKHN1 transcript variant X6 XM_017002479.2:c.11G>A S [AGC] > N [AAC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X6 XP_016857968.2:p.Ser4Asn S (Ser) > N (Asn) Missense Variant
PLEKHN1 transcript variant X6 XM_017002479.2:c.11G>C S [AGC] > T [ACC] Coding Sequence Variant
pleckstrin homology domain-containing family N member 1 isoform X6 XP_016857968.2:p.Ser4Thr S (Ser) > T (Thr) 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: A (allele ID: 707605 )
ClinVar Accession Disease Names Clinical Significance
RCV000964278.3 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 G= A C
GRCh38.p14 chr 1 NC_000001.11:g.966542= NC_000001.11:g.966542G>A NC_000001.11:g.966542G>C
GRCh37.p13 chr 1 NC_000001.10:g.901922= NC_000001.10:g.901922G>A NC_000001.10:g.901922G>C
KLHL17 RefSeqGene NG_027546.1:g.10956= NG_027546.1:g.10956G>A NG_027546.1:g.10956G>C
PLEKHN1 transcript variant X1 XM_011542248.3:c.11= XM_011542248.3:c.11G>A XM_011542248.3:c.11G>C
PLEKHN1 transcript variant 1 NM_032129.3:c.11= NM_032129.3:c.11G>A NM_032129.3:c.11G>C
PLEKHN1 transcript variant 1 NM_032129.2:c.11= NM_032129.2:c.11G>A NM_032129.2:c.11G>C
PLEKHN1 transcript variant X5 XM_017002478.3:c.11= XM_017002478.3:c.11G>A XM_017002478.3:c.11G>C
PLEKHN1 transcript variant X8 XM_017002478.2:c.335= XM_017002478.2:c.335G>A XM_017002478.2:c.335G>C
PLEKHN1 transcript variant X8 XM_017002478.1:c.335= XM_017002478.1:c.335G>A XM_017002478.1:c.335G>C
PLEKHN1 transcript variant X1 XM_017002475.2:c.11= XM_017002475.2:c.11G>A XM_017002475.2:c.11G>C
PLEKHN1 transcript variant X4 XM_017002475.1:c.335= XM_017002475.1:c.335G>A XM_017002475.1:c.335G>C
PLEKHN1 transcript variant X3 XM_017002474.2:c.11= XM_017002474.2:c.11G>A XM_017002474.2:c.11G>C
PLEKHN1 transcript variant X3 XM_017002474.1:c.335= XM_017002474.1:c.335G>A XM_017002474.1:c.335G>C
PLEKHN1 transcript variant 2 NM_001160184.2:c.11= NM_001160184.2:c.11G>A NM_001160184.2:c.11G>C
PLEKHN1 transcript variant 2 NM_001160184.1:c.11= NM_001160184.1:c.11G>A NM_001160184.1:c.11G>C
PLEKHN1 transcript variant X6 XM_017002479.2:c.11= XM_017002479.2:c.11G>A XM_017002479.2:c.11G>C
PLEKHN1 transcript variant X9 XM_017002479.1:c.335= XM_017002479.1:c.335G>A XM_017002479.1:c.335G>C
PLEKHN1 transcript variant 4 NM_001410697.1:c.11= NM_001410697.1:c.11G>A NM_001410697.1:c.11G>C
PLEKHN1 transcript variant 3 NM_001367552.1:c.11= NM_001367552.1:c.11G>A NM_001367552.1:c.11G>C
PLEKHN1 transcript variant X2 XM_047431794.1:c.11= XM_047431794.1:c.11G>A XM_047431794.1:c.11G>C
PLEKHN1 transcript variant X4 XM_047431795.1:c.11= XM_047431795.1:c.11G>A XM_047431795.1:c.11G>C
pleckstrin homology domain-containing family N member 1 isoform X1 XP_011540550.3:p.Ser4= XP_011540550.3:p.Ser4Asn XP_011540550.3:p.Ser4Thr
pleckstrin homology domain-containing family N member 1 isoform a NP_115505.2:p.Ser4= NP_115505.2:p.Ser4Asn NP_115505.2:p.Ser4Thr
pleckstrin homology domain-containing family N member 1 isoform X5 XP_016857967.2:p.Ser4= XP_016857967.2:p.Ser4Asn XP_016857967.2:p.Ser4Thr
pleckstrin homology domain-containing family N member 1 isoform X1 XP_016857964.2:p.Ser4= XP_016857964.2:p.Ser4Asn XP_016857964.2:p.Ser4Thr
pleckstrin homology domain-containing family N member 1 isoform X3 XP_016857963.2:p.Ser4= XP_016857963.2:p.Ser4Asn XP_016857963.2:p.Ser4Thr
pleckstrin homology domain-containing family N member 1 isoform b NP_001153656.1:p.Ser4= NP_001153656.1:p.Ser4Asn NP_001153656.1:p.Ser4Thr
pleckstrin homology domain-containing family N member 1 isoform X6 XP_016857968.2:p.Ser4= XP_016857968.2:p.Ser4Asn XP_016857968.2:p.Ser4Thr
pleckstrin homology domain-containing family N member 1 isoform c NP_001354481.1:p.Ser4= NP_001354481.1:p.Ser4Asn NP_001354481.1:p.Ser4Thr
pleckstrin homology domain-containing family N member 1 isoform X2 XP_047287750.1:p.Ser4= XP_047287750.1:p.Ser4Asn XP_047287750.1:p.Ser4Thr
pleckstrin homology domain-containing family N member 1 isoform X4 XP_047287751.1:p.Ser4= XP_047287751.1:p.Ser4Asn XP_047287751.1:p.Ser4Thr
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#.

61 SubSNP, 21 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CORNELL ss86245124 Mar 25, 2008 (129)
2 1000GENOMES ss328358820 May 09, 2011 (134)
3 NHLBI-ESP ss341923785 May 09, 2011 (134)
4 1000GENOMES ss489714213 May 04, 2012 (137)
5 EXOME_CHIP ss491283890 May 04, 2012 (137)
6 CLINSEQ_SNP ss491581722 May 04, 2012 (137)
7 ILLUMINA ss780777352 Sep 08, 2015 (146)
8 ILLUMINA ss783457381 Sep 08, 2015 (146)
9 EVA-GONL ss974770601 Aug 21, 2014 (142)
10 JMKIDD_LAB ss1067414316 Aug 21, 2014 (142)
11 1000GENOMES ss1289344402 Aug 21, 2014 (142)
12 1000GENOMES ss1289344403 Aug 21, 2014 (142)
13 EVA_UK10K_ALSPAC ss1599380115 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1599380116 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1642374148 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1642374149 Apr 01, 2015 (144)
17 EVA_EXAC ss1685220657 Apr 01, 2015 (144)
18 EVA_EXAC ss1685220658 Apr 01, 2015 (144)
19 ILLUMINA ss1751937883 Sep 08, 2015 (146)
20 ILLUMINA ss1917720857 Feb 12, 2016 (147)
21 WEILL_CORNELL_DGM ss1917962105 Feb 12, 2016 (147)
22 ILLUMINA ss1945981677 Feb 12, 2016 (147)
23 ILLUMINA ss1958230326 Feb 12, 2016 (147)
24 HUMAN_LONGEVITY ss2159374036 Dec 20, 2016 (150)
25 GNOMAD ss2730991530 Nov 08, 2017 (151)
26 GNOMAD ss2746171097 Nov 08, 2017 (151)
27 GNOMAD ss2750654554 Nov 08, 2017 (151)
28 SWEGEN ss2986151770 Nov 08, 2017 (151)
29 SWEGEN ss2986151771 Nov 08, 2017 (151)
30 ILLUMINA ss3021043330 Nov 08, 2017 (151)
31 ILLUMINA ss3626006791 Oct 11, 2018 (152)
32 ILLUMINA ss3634301912 Oct 11, 2018 (152)
33 ILLUMINA ss3640009278 Oct 11, 2018 (152)
34 ILLUMINA ss3644477546 Oct 11, 2018 (152)
35 ILLUMINA ss3651365383 Oct 11, 2018 (152)
36 EGCUT_WGS ss3654263024 Jul 12, 2019 (153)
37 EVA_DECODE ss3685994616 Jul 12, 2019 (153)
38 EVA_DECODE ss3685994617 Jul 12, 2019 (153)
39 ACPOP ss3726717387 Jul 12, 2019 (153)
40 ILLUMINA ss3744337284 Jul 12, 2019 (153)
41 ILLUMINA ss3744602844 Jul 12, 2019 (153)
42 PAGE_CC ss3770778655 Jul 12, 2019 (153)
43 ILLUMINA ss3772104607 Jul 12, 2019 (153)
44 KHV_HUMAN_GENOMES ss3798745160 Jul 12, 2019 (153)
45 EVA ss3823541998 Apr 25, 2020 (154)
46 SGDP_PRJ ss3847999368 Apr 25, 2020 (154)
47 FSA-LAB ss3983910398 Apr 25, 2021 (155)
48 EVA ss3986090778 Apr 25, 2021 (155)
49 TOPMED ss4436473492 Apr 25, 2021 (155)
50 TOPMED ss4436473493 Apr 25, 2021 (155)
51 EVA ss5236862300 Apr 25, 2021 (155)
52 1000G_HIGH_COVERAGE ss5240868110 Oct 12, 2022 (156)
53 HUGCELL_USP ss5442115723 Oct 12, 2022 (156)
54 HUGCELL_USP ss5442115724 Oct 12, 2022 (156)
55 1000G_HIGH_COVERAGE ss5512494670 Oct 12, 2022 (156)
56 SANFORD_IMAGENETICS ss5624752284 Oct 12, 2022 (156)
57 EVA ss5831420430 Oct 12, 2022 (156)
58 EVA ss5831420431 Oct 12, 2022 (156)
59 EVA ss5847521306 Oct 12, 2022 (156)
60 EVA ss5848243189 Oct 12, 2022 (156)
61 EVA ss5936584909 Oct 12, 2022 (156)
62 1000Genomes NC_000001.10 - 901922 Oct 11, 2018 (152)
63 1000Genomes_30x NC_000001.11 - 966542 Oct 12, 2022 (156)
64 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 2265 (NC_000001.10:901921:G:G 3846/3854, NC_000001.10:901921:G:C 8/3854)
Row 2266 (NC_000001.10:901921:G:G 3852/3854, NC_000001.10:901921:G:A 2/3854)

- Oct 11, 2018 (152)
65 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 2265 (NC_000001.10:901921:G:G 3846/3854, NC_000001.10:901921:G:C 8/3854)
Row 2266 (NC_000001.10:901921:G:G 3852/3854, NC_000001.10:901921:G:A 2/3854)

- Oct 11, 2018 (152)
66 Genetic variation in the Estonian population NC_000001.10 - 901922 Oct 11, 2018 (152)
67 ExAC

Submission ignored due to conflicting rows:
Row 4394009 (NC_000001.10:901921:G:G 110922/111334, NC_000001.10:901921:G:A 412/111334)
Row 4394010 (NC_000001.10:901921:G:G 110822/111334, NC_000001.10:901921:G:C 512/111334)

- Oct 11, 2018 (152)
68 ExAC

Submission ignored due to conflicting rows:
Row 4394009 (NC_000001.10:901921:G:G 110922/111334, NC_000001.10:901921:G:A 412/111334)
Row 4394010 (NC_000001.10:901921:G:G 110822/111334, NC_000001.10:901921:G:C 512/111334)

- Oct 11, 2018 (152)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 99931 (NC_000001.11:966541:G:A 1590/140278)
Row 99932 (NC_000001.11:966541:G:C 503/140282)

- Apr 25, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 99931 (NC_000001.11:966541:G:A 1590/140278)
Row 99932 (NC_000001.11:966541:G:C 503/140282)

- Apr 25, 2021 (155)
71 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6311 (NC_000001.10:901921:G:G 244898/245632, NC_000001.10:901921:G:A 734/245632)
Row 6312 (NC_000001.10:901921:G:G 244602/245632, NC_000001.10:901921:G:C 1030/245632)

- Jul 12, 2019 (153)
72 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6311 (NC_000001.10:901921:G:G 244898/245632, NC_000001.10:901921:G:A 734/245632)
Row 6312 (NC_000001.10:901921:G:G 244602/245632, NC_000001.10:901921:G:C 1030/245632)

- Jul 12, 2019 (153)
73 GO Exome Sequencing Project NC_000001.10 - 901922 Oct 11, 2018 (152)
74 Northern Sweden NC_000001.10 - 901922 Jul 12, 2019 (153)
75 The PAGE Study NC_000001.11 - 966542 Jul 12, 2019 (153)
76 Qatari NC_000001.10 - 901922 Apr 25, 2020 (154)
77 SGDP_PRJ NC_000001.10 - 901922 Apr 25, 2020 (154)
78 TopMed

Submission ignored due to conflicting rows:
Row 79827 (NC_000001.11:966541:G:A 3175/264690)
Row 79828 (NC_000001.11:966541:G:C 846/264690)

- Apr 25, 2021 (155)
79 TopMed

Submission ignored due to conflicting rows:
Row 79827 (NC_000001.11:966541:G:A 3175/264690)
Row 79828 (NC_000001.11:966541:G:C 846/264690)

- Apr 25, 2021 (155)
80 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 2265 (NC_000001.10:901921:G:G 3690/3708, NC_000001.10:901921:G:C 18/3708)
Row 2266 (NC_000001.10:901921:G:G 3707/3708, NC_000001.10:901921:G:A 1/3708)

- Oct 11, 2018 (152)
81 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 2265 (NC_000001.10:901921:G:G 3690/3708, NC_000001.10:901921:G:C 18/3708)
Row 2266 (NC_000001.10:901921:G:G 3707/3708, NC_000001.10:901921:G:A 1/3708)

- Oct 11, 2018 (152)
82 ALFA NC_000001.11 - 966542 Apr 25, 2021 (155)
83 ClinVar RCV000964278.3 Oct 12, 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
9333, 735, 4035, 16348, ss328358820, ss341923785, ss489714213, ss491283890, ss780777352, ss783457381, ss1067414316, ss1289344402, ss1599380116, ss1642374149, ss1685220657, ss1751937883, ss1917720857, ss1917962105, ss1945981677, ss1958230326, ss2730991530, ss2746171097, ss2750654554, ss2986151771, ss3021043330, ss3626006791, ss3634301912, ss3640009278, ss3644477546, ss3651365383, ss3744337284, ss3744602844, ss3772104607, ss3823541998, ss3847999368, ss3983910398, ss3986090778, ss5624752284, ss5831420430, ss5847521306, ss5936584909 NC_000001.10:901921:G:A NC_000001.11:966541:G:A (self)
RCV000964278.3, 20605, 124, 1008427096, ss2159374036, ss3685994616, ss3770778655, ss3798745160, ss4436473492, ss5236862300, ss5240868110, ss5442115723, ss5512494670 NC_000001.11:966541:G:A NC_000001.11:966541:G:A (self)
ss86245124 NT_004350.19:380553:G:A NC_000001.11:966541:G:A (self)
ss491581722 NC_000001.9:891784:G:C NC_000001.11:966541:G:C (self)
9333, 1272, 2252, 16348, ss974770601, ss1289344403, ss1599380115, ss1642374148, ss1685220658, ss2730991530, ss2746171097, ss2750654554, ss2986151770, ss3654263024, ss3726717387, ss3847999368, ss3986090778, ss5831420431, ss5848243189 NC_000001.10:901921:G:C NC_000001.11:966541:G:C (self)
20605, 1008427096, ss2159374036, ss3685994617, ss4436473493, ss5442115724, ss5512494670 NC_000001.11:966541:G:C NC_000001.11:966541:G:C (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 rs62639980

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.post825+45319f0