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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.

rs200642525

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:237387353 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000283 (75/264690, TOPMED)
G=0.000161 (40/249166, GnomAD_exome)
G=0.000285 (40/140248, GnomAD) (+ 8 more)
G=0.000420 (58/138222, ALFA)
G=0.000141 (17/120754, ExAC)
G=0.00013 (10/78670, PAGE_STUDY)
G=0.00025 (3/12192, GO-ESP)
G=0.0002 (1/4480, Estonian)
G=0.0016 (6/3854, ALSPAC)
G=0.0005 (2/3708, TWINSUK)
G=0.001 (1/998, GoNL)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RYR2 : Missense Variant
Publications
5 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 154622 A=0.999612 G=0.000388
European Sub 124744 A=0.999551 G=0.000449
African Sub 8992 A=1.0000 G=0.0000
African Others Sub 308 A=1.000 G=0.000
African American Sub 8684 A=1.0000 G=0.0000
Asian Sub 3188 A=1.0000 G=0.0000
East Asian Sub 1940 A=1.0000 G=0.0000
Other Asian Sub 1248 A=1.0000 G=0.0000
Latin American 1 Sub 506 A=1.000 G=0.000
Latin American 2 Sub 650 A=1.000 G=0.000
South Asian Sub 104 A=1.000 G=0.000
Other Sub 16438 A=0.99976 G=0.00024


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 A=0.999717 G=0.000283
gnomAD - Exomes Global Study-wide 249166 A=0.999839 G=0.000161
gnomAD - Exomes European Sub 134470 A=0.999725 G=0.000275
gnomAD - Exomes Asian Sub 48572 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34528 A=0.99997 G=0.00003
gnomAD - Exomes African Sub 15486 A=0.99987 G=0.00013
gnomAD - Exomes Ashkenazi Jewish Sub 10062 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6048 A=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140248 A=0.999715 G=0.000285
gnomAD - Genomes European Sub 75950 A=0.99954 G=0.00046
gnomAD - Genomes African Sub 42038 A=0.99988 G=0.00012
gnomAD - Genomes American Sub 13660 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3128 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 A=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 138222 A=0.999580 G=0.000420
Allele Frequency Aggregator European Sub 114616 A=0.999529 G=0.000471
Allele Frequency Aggregator Other Sub 15004 A=0.99973 G=0.00027
Allele Frequency Aggregator African Sub 4154 A=1.0000 G=0.0000
Allele Frequency Aggregator Asian Sub 3188 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 650 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 506 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 104 A=1.000 G=0.000
ExAC Global Study-wide 120754 A=0.999859 G=0.000141
ExAC Europe Sub 73340 A=0.99977 G=0.00023
ExAC Asian Sub 25136 A=1.00000 G=0.00000
ExAC American Sub 11576 A=1.00000 G=0.00000
ExAC African Sub 9802 A=1.0000 G=0.0000
ExAC Other Sub 900 A=1.000 G=0.000
The PAGE Study Global Study-wide 78670 A=0.99987 G=0.00013
The PAGE Study AfricanAmerican Sub 32508 A=0.99978 G=0.00022
The PAGE Study Mexican Sub 10804 A=1.00000 G=0.00000
The PAGE Study Asian Sub 8310 A=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 A=1.0000 G=0.0000
The PAGE Study NativeHawaiian Sub 4526 A=1.0000 G=0.0000
The PAGE Study Cuban Sub 4230 A=0.9993 G=0.0007
The PAGE Study Dominican Sub 3828 A=1.0000 G=0.0000
The PAGE Study CentralAmerican Sub 2450 A=1.0000 G=0.0000
The PAGE Study SouthAmerican Sub 1982 A=1.0000 G=0.0000
The PAGE Study NativeAmerican Sub 1260 A=1.0000 G=0.0000
The PAGE Study SouthAsian Sub 854 A=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 12192 A=0.99975 G=0.00025
GO Exome Sequencing Project European American Sub 8292 A=0.9996 G=0.0004
GO Exome Sequencing Project African American Sub 3900 A=1.0000 G=0.0000
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9998 G=0.0002
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9984 G=0.0016
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9995 G=0.0005
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.999 G=0.001
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.237387353A>G
GRCh37.p13 chr 1 NC_000001.10:g.237550653A>G
RYR2 RefSeqGene (LRG_402) NG_008799.3:g.350170A>G
Gene: RYR2, ryanodine receptor 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RYR2 transcript NM_001035.3:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 NP_001026.2:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X1 XM_006711802.4:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X1 XP_006711865.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X2 XM_006711803.4:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X2 XP_006711866.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X3 XM_017002028.2:c.628A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X3 XP_016857517.1:p.Ile210Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X4 XM_006711804.4:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X4 XP_006711867.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X5 XM_006711805.4:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X5 XP_006711868.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X6 XM_047427317.1:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X6 XP_047283273.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X7 XM_006711806.4:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X7 XP_006711869.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X8 XM_006711807.4:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X8 XP_006711870.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X9 XM_006711808.4:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X9 XP_006711871.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X10 XM_047427329.1:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X10 XP_047283285.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X11 XM_047427333.1:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X11 XP_047283289.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X12 XM_047427336.1:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X12 XP_047283292.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X13 XM_047427337.1:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X13 XP_047283293.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X14 XM_047427341.1:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X14 XP_047283297.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X17 XM_006711810.4:c.649A>G I [ATC] > V [GTC] Coding Sequence Variant
ryanodine receptor 2 isoform X15 XP_006711873.1:p.Ile217Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X15 XR_007062490.1:n.987A>G N/A Non Coding Transcript Variant
RYR2 transcript variant X16 XR_002957299.2:n.987A>G N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 172403 )
ClinVar Accession Disease Names Clinical Significance
RCV000151754.12 not specified Conflicting-Interpretations-Of-Pathogenicity
RCV000171760.13 not provided Conflicting-Interpretations-Of-Pathogenicity
RCV000229055.8 Catecholaminergic polymorphic ventricular tachycardia Uncertain-Significance
RCV000415633.4 Arrhythmogenic right ventricular dysplasia 2 Benign
RCV000619874.3 Cardiovascular phenotype Likely-Benign
RCV001098450.3 Catecholaminergic polymorphic ventricular tachycardia 1 Likely-Benign
RCV001171188.4 Cardiomyopathy Conflicting-Interpretations-Of-Pathogenicity
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 A= G
GRCh38.p14 chr 1 NC_000001.11:g.237387353= NC_000001.11:g.237387353A>G
GRCh37.p13 chr 1 NC_000001.10:g.237550653= NC_000001.10:g.237550653A>G
RYR2 RefSeqGene (LRG_402) NG_008799.3:g.350170= NG_008799.3:g.350170A>G
RYR2 transcript NM_001035.3:c.649= NM_001035.3:c.649A>G
RYR2 transcript NM_001035.2:c.649= NM_001035.2:c.649A>G
RYR2 transcript variant X1 XM_006711802.4:c.649= XM_006711802.4:c.649A>G
RYR2 transcript variant X1 XM_006711802.3:c.649= XM_006711802.3:c.649A>G
RYR2 transcript variant X1 XM_006711802.2:c.649= XM_006711802.2:c.649A>G
RYR2 transcript variant X1 XM_006711802.1:c.649= XM_006711802.1:c.649A>G
RYR2 transcript variant X2 XM_006711803.4:c.649= XM_006711803.4:c.649A>G
RYR2 transcript variant X2 XM_006711803.3:c.649= XM_006711803.3:c.649A>G
RYR2 transcript variant X2 XM_006711803.2:c.649= XM_006711803.2:c.649A>G
RYR2 transcript variant X2 XM_006711803.1:c.649= XM_006711803.1:c.649A>G
RYR2 transcript variant X4 XM_006711804.4:c.649= XM_006711804.4:c.649A>G
RYR2 transcript variant X4 XM_006711804.3:c.649= XM_006711804.3:c.649A>G
RYR2 transcript variant X3 XM_006711804.2:c.649= XM_006711804.2:c.649A>G
RYR2 transcript variant X3 XM_006711804.1:c.649= XM_006711804.1:c.649A>G
RYR2 transcript variant X5 XM_006711805.4:c.649= XM_006711805.4:c.649A>G
RYR2 transcript variant X5 XM_006711805.3:c.649= XM_006711805.3:c.649A>G
RYR2 transcript variant X4 XM_006711805.2:c.649= XM_006711805.2:c.649A>G
RYR2 transcript variant X4 XM_006711805.1:c.649= XM_006711805.1:c.649A>G
RYR2 transcript variant X7 XM_006711806.4:c.649= XM_006711806.4:c.649A>G
RYR2 transcript variant X6 XM_006711806.3:c.649= XM_006711806.3:c.649A>G
RYR2 transcript variant X5 XM_006711806.2:c.649= XM_006711806.2:c.649A>G
RYR2 transcript variant X5 XM_006711806.1:c.649= XM_006711806.1:c.649A>G
RYR2 transcript variant X8 XM_006711807.4:c.649= XM_006711807.4:c.649A>G
RYR2 transcript variant X7 XM_006711807.3:c.649= XM_006711807.3:c.649A>G
RYR2 transcript variant X6 XM_006711807.2:c.649= XM_006711807.2:c.649A>G
RYR2 transcript variant X6 XM_006711807.1:c.649= XM_006711807.1:c.649A>G
RYR2 transcript variant X17 XM_006711810.4:c.649= XM_006711810.4:c.649A>G
RYR2 transcript variant X11 XM_006711810.3:c.649= XM_006711810.3:c.649A>G
RYR2 transcript variant X10 XM_006711810.2:c.649= XM_006711810.2:c.649A>G
RYR2 transcript variant X9 XM_006711810.1:c.649= XM_006711810.1:c.649A>G
RYR2 transcript variant X9 XM_006711808.4:c.649= XM_006711808.4:c.649A>G
RYR2 transcript variant X8 XM_006711808.3:c.649= XM_006711808.3:c.649A>G
RYR2 transcript variant X7 XM_006711808.2:c.649= XM_006711808.2:c.649A>G
RYR2 transcript variant X7 XM_006711808.1:c.649= XM_006711808.1:c.649A>G
RYR2 transcript variant X3 XM_017002028.2:c.628= XM_017002028.2:c.628A>G
RYR2 transcript variant X3 XM_017002028.1:c.628= XM_017002028.1:c.628A>G
RYR2 transcript variant X16 XR_002957299.2:n.987= XR_002957299.2:n.987A>G
RYR2 transcript variant X10 XR_002957299.1:n.963= XR_002957299.1:n.963A>G
RYR2 transcript variant X6 XM_047427317.1:c.649= XM_047427317.1:c.649A>G
RYR2 transcript variant X10 XM_047427329.1:c.649= XM_047427329.1:c.649A>G
RYR2 transcript variant X11 XM_047427333.1:c.649= XM_047427333.1:c.649A>G
RYR2 transcript variant X12 XM_047427336.1:c.649= XM_047427336.1:c.649A>G
RYR2 transcript variant X13 XM_047427337.1:c.649= XM_047427337.1:c.649A>G
RYR2 transcript variant X14 XM_047427341.1:c.649= XM_047427341.1:c.649A>G
RYR2 transcript variant X15 XR_007062490.1:n.987= XR_007062490.1:n.987A>G
ryanodine receptor 2 NP_001026.2:p.Ile217= NP_001026.2:p.Ile217Val
ryanodine receptor 2 isoform X1 XP_006711865.1:p.Ile217= XP_006711865.1:p.Ile217Val
ryanodine receptor 2 isoform X2 XP_006711866.1:p.Ile217= XP_006711866.1:p.Ile217Val
ryanodine receptor 2 isoform X4 XP_006711867.1:p.Ile217= XP_006711867.1:p.Ile217Val
ryanodine receptor 2 isoform X5 XP_006711868.1:p.Ile217= XP_006711868.1:p.Ile217Val
ryanodine receptor 2 isoform X7 XP_006711869.1:p.Ile217= XP_006711869.1:p.Ile217Val
ryanodine receptor 2 isoform X8 XP_006711870.1:p.Ile217= XP_006711870.1:p.Ile217Val
ryanodine receptor 2 isoform X15 XP_006711873.1:p.Ile217= XP_006711873.1:p.Ile217Val
ryanodine receptor 2 isoform X9 XP_006711871.1:p.Ile217= XP_006711871.1:p.Ile217Val
ryanodine receptor 2 isoform X3 XP_016857517.1:p.Ile210= XP_016857517.1:p.Ile210Val
ryanodine receptor 2 isoform X6 XP_047283273.1:p.Ile217= XP_047283273.1:p.Ile217Val
ryanodine receptor 2 isoform X10 XP_047283285.1:p.Ile217= XP_047283285.1:p.Ile217Val
ryanodine receptor 2 isoform X11 XP_047283289.1:p.Ile217= XP_047283289.1:p.Ile217Val
ryanodine receptor 2 isoform X12 XP_047283292.1:p.Ile217= XP_047283292.1:p.Ile217Val
ryanodine receptor 2 isoform X13 XP_047283293.1:p.Ile217= XP_047283293.1:p.Ile217Val
ryanodine receptor 2 isoform X14 XP_047283297.1:p.Ile217= XP_047283297.1:p.Ile217Val
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#.

38 SubSNP, 11 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EXOME_CHIP ss491313145 May 04, 2012 (137)
2 NHLBI-ESP ss712379775 Apr 25, 2013 (138)
3 ILLUMINA ss780764560 Sep 08, 2015 (146)
4 ILLUMINA ss783443818 Sep 08, 2015 (146)
5 EVA-GONL ss976300196 Aug 21, 2014 (142)
6 JMKIDD_LAB ss1067433805 Aug 21, 2014 (142)
7 EVA_UK10K_ALSPAC ss1602450467 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1645444500 Apr 01, 2015 (144)
9 EVA_EXAC ss1686131133 Apr 01, 2015 (144)
10 ILLUMINA ss1751907502 Sep 08, 2015 (146)
11 ILLUMINA ss1917744491 Feb 12, 2016 (147)
12 ILLUMINA ss1946027969 Feb 12, 2016 (147)
13 ILLUMINA ss1958371333 Feb 12, 2016 (147)
14 HUMAN_LONGEVITY ss2171278068 Dec 20, 2016 (150)
15 GNOMAD ss2732392693 Nov 08, 2017 (151)
16 GNOMAD ss2746597981 Nov 08, 2017 (151)
17 GNOMAD ss2767849021 Nov 08, 2017 (151)
18 AFFY ss2984899133 Nov 08, 2017 (151)
19 SWEGEN ss2988691496 Nov 08, 2017 (151)
20 ILLUMINA ss3021195692 Nov 08, 2017 (151)
21 ILLUMINA ss3626343553 Oct 11, 2018 (152)
22 ILLUMINA ss3634380927 Oct 11, 2018 (152)
23 ILLUMINA ss3640088280 Oct 11, 2018 (152)
24 ILLUMINA ss3644523972 Oct 11, 2018 (152)
25 ILLUMINA ss3651541653 Oct 11, 2018 (152)
26 ILLUMINA ss3653669347 Oct 11, 2018 (152)
27 EGCUT_WGS ss3656650394 Jul 12, 2019 (153)
28 ILLUMINA ss3725119519 Jul 12, 2019 (153)
29 ILLUMINA ss3744362353 Jul 12, 2019 (153)
30 ILLUMINA ss3744681833 Jul 12, 2019 (153)
31 PAGE_CC ss3770883037 Jul 12, 2019 (153)
32 ILLUMINA ss3772182607 Jul 12, 2019 (153)
33 EVA ss3823732111 Apr 25, 2020 (154)
34 TOPMED ss4488591399 Apr 25, 2021 (155)
35 EVA ss5237634810 Oct 17, 2022 (156)
36 EVA ss5325714059 Oct 17, 2022 (156)
37 EVA ss5847580086 Oct 17, 2022 (156)
38 EVA ss5939587013 Oct 17, 2022 (156)
39 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 237550653 Oct 11, 2018 (152)
40 Genetic variation in the Estonian population NC_000001.10 - 237550653 Oct 11, 2018 (152)
41 ExAC NC_000001.10 - 237550653 Oct 11, 2018 (152)
42 gnomAD - Genomes NC_000001.11 - 237387353 Apr 25, 2021 (155)
43 gnomAD - Exomes NC_000001.10 - 237550653 Jul 12, 2019 (153)
44 GO Exome Sequencing Project NC_000001.10 - 237550653 Oct 11, 2018 (152)
45 Genome of the Netherlands Release 5 NC_000001.10 - 237550653 Apr 25, 2020 (154)
46 The PAGE Study NC_000001.11 - 237387353 Jul 12, 2019 (153)
47 TopMed NC_000001.11 - 237387353 Apr 25, 2021 (155)
48 UK 10K study - Twins NC_000001.10 - 237550653 Oct 11, 2018 (152)
49 ALFA NC_000001.11 - 237387353 Apr 25, 2021 (155)
50 ClinVar RCV000151754.12 Oct 17, 2022 (156)
51 ClinVar RCV000171760.13 Oct 17, 2022 (156)
52 ClinVar RCV000229055.8 Oct 17, 2022 (156)
53 ClinVar RCV000415633.4 Oct 17, 2022 (156)
54 ClinVar RCV000619874.3 Oct 17, 2022 (156)
55 ClinVar RCV001098450.3 Oct 17, 2022 (156)
56 ClinVar RCV001171188.4 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
3380807, 2388642, 5373492, 1431474, 190612, 1479086, 3380807, ss491313145, ss712379775, ss780764560, ss783443818, ss976300196, ss1067433805, ss1602450467, ss1645444500, ss1686131133, ss1751907502, ss1917744491, ss1946027969, ss1958371333, ss2732392693, ss2746597981, ss2767849021, ss2984899133, ss2988691496, ss3021195692, ss3626343553, ss3634380927, ss3640088280, ss3644523972, ss3651541653, ss3653669347, ss3656650394, ss3744362353, ss3744681833, ss3772182607, ss3823732111, ss5325714059, ss5847580086, ss5939587013 NC_000001.10:237550652:A:G NC_000001.11:237387352:A:G (self)
RCV000151754.12, RCV000171760.13, RCV000229055.8, RCV000415633.4, RCV000619874.3, RCV001098450.3, RCV001171188.4, 43729544, 104506, 52197734, 4263193667, ss2171278068, ss3725119519, ss3770883037, ss4488591399, ss5237634810 NC_000001.11:237387352:A:G NC_000001.11:237387352:A:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

5 citations for rs200642525
PMID Title Author Year Journal
22677073 Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Tester DJ et al. 2012 Mayo Clinic proceedings
23861362 Interpreting secondary cardiac disease variants in an exome cohort. Ng D et al. 2013 Circulation. Cardiovascular genetics
24025405 New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Jabbari J et al. 2013 Circulation. Cardiovascular genetics
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
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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
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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