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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.

rs574563209

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:237445404 (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=0.000008 (2/264690, TOPMED)
G=0.000004 (1/248996, GnomAD_exome)
G=0.000007 (1/140180, GnomAD) (+ 4 more)
G=0.000017 (2/120638, ExAC)
G=0.00000 (0/14050, ALFA)
G=0.0002 (1/6404, 1000G_30x)
G=0.0002 (1/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RYR2 : 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 14050 A=1.00000 G=0.00000
European Sub 9690 A=1.0000 G=0.0000
African Sub 2898 A=1.0000 G=0.0000
African Others Sub 114 A=1.000 G=0.000
African American Sub 2784 A=1.0000 G=0.0000
Asian Sub 112 A=1.000 G=0.000
East Asian Sub 86 A=1.00 G=0.00
Other Asian Sub 26 A=1.00 G=0.00
Latin American 1 Sub 146 A=1.000 G=0.000
Latin American 2 Sub 610 A=1.000 G=0.000
South Asian Sub 98 A=1.00 G=0.00
Other Sub 496 A=1.000 G=0.000


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=0.999992 G=0.000008
gnomAD - Exomes Global Study-wide 248996 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 134394 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48562 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34450 A=0.99997 G=0.00003
gnomAD - Exomes African Sub 15484 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10060 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6046 A=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140180 A=0.999993 G=0.000007
gnomAD - Genomes European Sub 75926 A=0.99999 G=0.00001
gnomAD - Genomes African Sub 42002 A=1.00000 G=0.00000
gnomAD - Genomes American Sub 13648 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 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
ExAC Global Study-wide 120638 A=0.999983 G=0.000017
ExAC Europe Sub 73314 A=1.00000 G=0.00000
ExAC Asian Sub 25122 A=0.99996 G=0.00004
ExAC American Sub 11502 A=0.99991 G=0.00009
ExAC African Sub 9802 A=1.0000 G=0.0000
ExAC Other Sub 898 A=1.000 G=0.000
Allele Frequency Aggregator Total Global 14050 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 9690 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 G=0.00
1000Genomes_30x Global Study-wide 6404 A=0.9998 G=0.0002
1000Genomes_30x African Sub 1786 A=1.0000 G=0.0000
1000Genomes_30x Europe Sub 1266 A=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 A=0.9992 G=0.0008
1000Genomes_30x East Asian Sub 1170 A=1.0000 G=0.0000
1000Genomes_30x American Sub 980 A=1.000 G=0.000
1000Genomes Global Study-wide 5008 A=0.9998 G=0.0002
1000Genomes African Sub 1322 A=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=0.999 G=0.001
1000Genomes American Sub 694 A=1.000 G=0.000
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.237445404A>G
GRCh37.p13 chr 1 NC_000001.10:g.237608704A>G
RYR2 RefSeqGene (LRG_402) NG_008799.3:g.408221A>G
Gene: RYR2, ryanodine receptor 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RYR2 transcript NM_001035.3:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 NP_001026.2:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X1 XM_006711802.4:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X1 XP_006711865.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X2 XM_006711803.4:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X2 XP_006711866.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X3 XM_017002028.2:c.1153A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X3 XP_016857517.1:p.Ile385Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X4 XM_006711804.4:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X4 XP_006711867.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X5 XM_006711805.4:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X5 XP_006711868.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X6 XM_047427317.1:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X6 XP_047283273.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X7 XM_006711806.4:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X7 XP_006711869.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X8 XM_006711807.4:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X8 XP_006711870.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X9 XM_006711808.4:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X9 XP_006711871.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X10 XM_047427329.1:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X10 XP_047283285.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X11 XM_047427333.1:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X11 XP_047283289.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X12 XM_047427336.1:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X12 XP_047283292.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X13 XM_047427337.1:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X13 XP_047283293.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X14 XM_047427341.1:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X14 XP_047283297.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X17 XM_006711810.4:c.1174A>G I [ATT] > V [GTT] Coding Sequence Variant
ryanodine receptor 2 isoform X15 XP_006711873.1:p.Ile392Val I (Ile) > V (Val) Missense Variant
RYR2 transcript variant X15 XR_007062490.1:n.1512A>G N/A Non Coding Transcript Variant
RYR2 transcript variant X16 XR_002957299.2:n.1512A>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: 906551 )
ClinVar Accession Disease Names Clinical Significance
RCV001187393.3 Cardiomyopathy Uncertain-Significance
RCV001204604.4 Catecholaminergic polymorphic ventricular tachycardia Uncertain-Significance
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.237445404= NC_000001.11:g.237445404A>G
GRCh37.p13 chr 1 NC_000001.10:g.237608704= NC_000001.10:g.237608704A>G
RYR2 RefSeqGene (LRG_402) NG_008799.3:g.408221= NG_008799.3:g.408221A>G
RYR2 transcript NM_001035.3:c.1174= NM_001035.3:c.1174A>G
RYR2 transcript NM_001035.2:c.1174= NM_001035.2:c.1174A>G
RYR2 transcript variant X1 XM_006711802.4:c.1174= XM_006711802.4:c.1174A>G
RYR2 transcript variant X1 XM_006711802.3:c.1174= XM_006711802.3:c.1174A>G
RYR2 transcript variant X1 XM_006711802.2:c.1174= XM_006711802.2:c.1174A>G
RYR2 transcript variant X1 XM_006711802.1:c.1174= XM_006711802.1:c.1174A>G
RYR2 transcript variant X2 XM_006711803.4:c.1174= XM_006711803.4:c.1174A>G
RYR2 transcript variant X2 XM_006711803.3:c.1174= XM_006711803.3:c.1174A>G
RYR2 transcript variant X2 XM_006711803.2:c.1174= XM_006711803.2:c.1174A>G
RYR2 transcript variant X2 XM_006711803.1:c.1174= XM_006711803.1:c.1174A>G
RYR2 transcript variant X4 XM_006711804.4:c.1174= XM_006711804.4:c.1174A>G
RYR2 transcript variant X4 XM_006711804.3:c.1174= XM_006711804.3:c.1174A>G
RYR2 transcript variant X3 XM_006711804.2:c.1174= XM_006711804.2:c.1174A>G
RYR2 transcript variant X3 XM_006711804.1:c.1174= XM_006711804.1:c.1174A>G
RYR2 transcript variant X5 XM_006711805.4:c.1174= XM_006711805.4:c.1174A>G
RYR2 transcript variant X5 XM_006711805.3:c.1174= XM_006711805.3:c.1174A>G
RYR2 transcript variant X4 XM_006711805.2:c.1174= XM_006711805.2:c.1174A>G
RYR2 transcript variant X4 XM_006711805.1:c.1174= XM_006711805.1:c.1174A>G
RYR2 transcript variant X7 XM_006711806.4:c.1174= XM_006711806.4:c.1174A>G
RYR2 transcript variant X6 XM_006711806.3:c.1174= XM_006711806.3:c.1174A>G
RYR2 transcript variant X5 XM_006711806.2:c.1174= XM_006711806.2:c.1174A>G
RYR2 transcript variant X5 XM_006711806.1:c.1174= XM_006711806.1:c.1174A>G
RYR2 transcript variant X8 XM_006711807.4:c.1174= XM_006711807.4:c.1174A>G
RYR2 transcript variant X7 XM_006711807.3:c.1174= XM_006711807.3:c.1174A>G
RYR2 transcript variant X6 XM_006711807.2:c.1174= XM_006711807.2:c.1174A>G
RYR2 transcript variant X6 XM_006711807.1:c.1174= XM_006711807.1:c.1174A>G
RYR2 transcript variant X17 XM_006711810.4:c.1174= XM_006711810.4:c.1174A>G
RYR2 transcript variant X11 XM_006711810.3:c.1174= XM_006711810.3:c.1174A>G
RYR2 transcript variant X10 XM_006711810.2:c.1174= XM_006711810.2:c.1174A>G
RYR2 transcript variant X9 XM_006711810.1:c.1174= XM_006711810.1:c.1174A>G
RYR2 transcript variant X9 XM_006711808.4:c.1174= XM_006711808.4:c.1174A>G
RYR2 transcript variant X8 XM_006711808.3:c.1174= XM_006711808.3:c.1174A>G
RYR2 transcript variant X7 XM_006711808.2:c.1174= XM_006711808.2:c.1174A>G
RYR2 transcript variant X7 XM_006711808.1:c.1174= XM_006711808.1:c.1174A>G
RYR2 transcript variant X3 XM_017002028.2:c.1153= XM_017002028.2:c.1153A>G
RYR2 transcript variant X3 XM_017002028.1:c.1153= XM_017002028.1:c.1153A>G
RYR2 transcript variant X16 XR_002957299.2:n.1512= XR_002957299.2:n.1512A>G
RYR2 transcript variant X10 XR_002957299.1:n.1488= XR_002957299.1:n.1488A>G
RYR2 transcript variant X6 XM_047427317.1:c.1174= XM_047427317.1:c.1174A>G
RYR2 transcript variant X10 XM_047427329.1:c.1174= XM_047427329.1:c.1174A>G
RYR2 transcript variant X11 XM_047427333.1:c.1174= XM_047427333.1:c.1174A>G
RYR2 transcript variant X12 XM_047427336.1:c.1174= XM_047427336.1:c.1174A>G
RYR2 transcript variant X13 XM_047427337.1:c.1174= XM_047427337.1:c.1174A>G
RYR2 transcript variant X14 XM_047427341.1:c.1174= XM_047427341.1:c.1174A>G
RYR2 transcript variant X15 XR_007062490.1:n.1512= XR_007062490.1:n.1512A>G
ryanodine receptor 2 NP_001026.2:p.Ile392= NP_001026.2:p.Ile392Val
ryanodine receptor 2 isoform X1 XP_006711865.1:p.Ile392= XP_006711865.1:p.Ile392Val
ryanodine receptor 2 isoform X2 XP_006711866.1:p.Ile392= XP_006711866.1:p.Ile392Val
ryanodine receptor 2 isoform X4 XP_006711867.1:p.Ile392= XP_006711867.1:p.Ile392Val
ryanodine receptor 2 isoform X5 XP_006711868.1:p.Ile392= XP_006711868.1:p.Ile392Val
ryanodine receptor 2 isoform X7 XP_006711869.1:p.Ile392= XP_006711869.1:p.Ile392Val
ryanodine receptor 2 isoform X8 XP_006711870.1:p.Ile392= XP_006711870.1:p.Ile392Val
ryanodine receptor 2 isoform X15 XP_006711873.1:p.Ile392= XP_006711873.1:p.Ile392Val
ryanodine receptor 2 isoform X9 XP_006711871.1:p.Ile392= XP_006711871.1:p.Ile392Val
ryanodine receptor 2 isoform X3 XP_016857517.1:p.Ile385= XP_016857517.1:p.Ile385Val
ryanodine receptor 2 isoform X6 XP_047283273.1:p.Ile392= XP_047283273.1:p.Ile392Val
ryanodine receptor 2 isoform X10 XP_047283285.1:p.Ile392= XP_047283285.1:p.Ile392Val
ryanodine receptor 2 isoform X11 XP_047283289.1:p.Ile392= XP_047283289.1:p.Ile392Val
ryanodine receptor 2 isoform X12 XP_047283292.1:p.Ile392= XP_047283292.1:p.Ile392Val
ryanodine receptor 2 isoform X13 XP_047283293.1:p.Ile392= XP_047283293.1:p.Ile392Val
ryanodine receptor 2 isoform X14 XP_047283297.1:p.Ile392= XP_047283297.1:p.Ile392Val
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#.

9 SubSNP, 7 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss1295230845 Aug 21, 2014 (142)
2 EVA_EXAC ss1686131296 Apr 01, 2015 (144)
3 GNOMAD ss2732392927 Nov 08, 2017 (151)
4 GNOMAD ss2746598054 Nov 08, 2017 (151)
5 GNOMAD ss2767853779 Nov 08, 2017 (151)
6 TOPMED ss4488605781 Apr 25, 2021 (155)
7 EVA ss5325716913 Oct 17, 2022 (156)
8 1000G_HIGH_COVERAGE ss5520652546 Oct 17, 2022 (156)
9 EVA ss5912560209 Oct 17, 2022 (156)
10 1000Genomes NC_000001.10 - 237608704 Oct 11, 2018 (152)
11 1000Genomes_30x NC_000001.11 - 237445404 Oct 17, 2022 (156)
12 ExAC NC_000001.10 - 237608704 Oct 11, 2018 (152)
13 gnomAD - Genomes NC_000001.11 - 237445404 Apr 25, 2021 (155)
14 gnomAD - Exomes NC_000001.10 - 237608704 Jul 12, 2019 (153)
15 TopMed NC_000001.11 - 237445404 Apr 25, 2021 (155)
16 ALFA NC_000001.11 - 237445404 Apr 25, 2021 (155)
17 ClinVar RCV001187393.3 Oct 17, 2022 (156)
18 ClinVar RCV001204604.4 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
6106854, 5373664, 1431718, ss1295230845, ss1686131296, ss2732392927, ss2746598054, ss2767853779, ss5325716913 NC_000001.10:237608703:A:G NC_000001.11:237445403:A:G (self)
RCV001187393.3, RCV001204604.4, 8178481, 43741549, 52212116, 6229262552, ss4488605781, ss5520652546, ss5912560209 NC_000001.11:237445403:A:G NC_000001.11:237445403:A:G (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 rs574563209

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