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dbSNP Short Genetic Variations

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.

rs369637169

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:38561186 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000004 (1/249992, GnomAD_exome)
T=0.000007 (1/140246, GnomAD) (+ 3 more)
T=0.000008 (1/120982, ExAC)
T=0.00000 (0/14050, ALFA)
T=0.00008 (1/13006, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RYR1 : 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 T=0.00000
European Sub 9690 A=1.0000 T=0.0000
African Sub 2898 A=1.0000 T=0.0000
African Others Sub 114 A=1.000 T=0.000
African American Sub 2784 A=1.0000 T=0.0000
Asian Sub 112 A=1.000 T=0.000
East Asian Sub 86 A=1.00 T=0.00
Other Asian Sub 26 A=1.00 T=0.00
Latin American 1 Sub 146 A=1.000 T=0.000
Latin American 2 Sub 610 A=1.000 T=0.000
South Asian Sub 98 A=1.00 T=0.00
Other Sub 496 A=1.000 T=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=0.999996 T=0.000004
gnomAD - Exomes Global Study-wide 249992 A=0.999996 T=0.000004
gnomAD - Exomes European Sub 133974 A=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 48994 A=1.00000 T=0.00000
gnomAD - Exomes American Sub 34578 A=1.00000 T=0.00000
gnomAD - Exomes African Sub 16246 A=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10068 A=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6132 A=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140246 A=0.999993 T=0.000007
gnomAD - Genomes European Sub 75944 A=0.99999 T=0.00001
gnomAD - Genomes African Sub 42036 A=1.00000 T=0.00000
gnomAD - Genomes American Sub 13654 A=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 A=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 A=1.0000 T=0.0000
ExAC Global Study-wide 120982 A=0.999992 T=0.000008
ExAC Europe Sub 73018 A=0.99999 T=0.00001
ExAC Asian Sub 25128 A=1.00000 T=0.00000
ExAC American Sub 11564 A=1.00000 T=0.00000
ExAC African Sub 10368 A=1.00000 T=0.00000
ExAC Other Sub 904 A=1.000 T=0.000
Allele Frequency Aggregator Total Global 14050 A=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 A=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 A=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 A=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 13006 A=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8600 A=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 4406 A=1.0000 T=0.0000
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 19 NC_000019.10:g.38561186A>T
GRCh37.p13 chr 19 NC_000019.9:g.39051826A>T
RYR1 RefSeqGene (LRG_766) NG_008866.1:g.132487A>T
Gene: RYR1, ryanodine receptor 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RYR1 transcript variant 2 NM_001042723.2:c.12341A>T N [AAC] > I [ATC] Coding Sequence Variant
ryanodine receptor 1 isoform 2 NP_001036188.1:p.Asn4114I…

NP_001036188.1:p.Asn4114Ile

N (Asn) > I (Ile) Missense Variant
RYR1 transcript variant 1 NM_000540.3:c.12356A>T N [AAC] > I [ATC] Coding Sequence Variant
ryanodine receptor 1 isoform 1 NP_000531.2:p.Asn4119Ile N (Asn) > I (Ile) Missense Variant
RYR1 transcript variant X4 XM_047439202.1:c. N/A Genic Downstream Transcript Variant
RYR1 transcript variant X1 XM_006723317.3:c.12338A>T N [AAC] > I [ATC] Coding Sequence Variant
ryanodine receptor 1 isoform X1 XP_006723380.1:p.Asn4113I…

XP_006723380.1:p.Asn4113Ile

N (Asn) > I (Ile) Missense Variant
RYR1 transcript variant X2 XM_006723319.3:c.12323A>T N [AAC] > I [ATC] Coding Sequence Variant
ryanodine receptor 1 isoform X2 XP_006723382.1:p.Asn4108I…

XP_006723382.1:p.Asn4108Ile

N (Asn) > I (Ile) Missense Variant
RYR1 transcript variant X3 XM_011527205.3:c.12356A>T N [AAC] > I [ATC] Coding Sequence Variant
ryanodine receptor 1 isoform X3 XP_011525507.1:p.Asn4119I…

XP_011525507.1:p.Asn4119Ile

N (Asn) > I (Ile) 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.

Not Reported in ClinVar
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= T
GRCh38.p14 chr 19 NC_000019.10:g.38561186= NC_000019.10:g.38561186A>T
GRCh37.p13 chr 19 NC_000019.9:g.39051826= NC_000019.9:g.39051826A>T
RYR1 RefSeqGene (LRG_766) NG_008866.1:g.132487= NG_008866.1:g.132487A>T
RYR1 transcript variant 1 NM_000540.3:c.12356= NM_000540.3:c.12356A>T
RYR1 transcript variant 1 NM_000540.2:c.12356= NM_000540.2:c.12356A>T
RYR1 transcript variant 2 NM_001042723.2:c.12341= NM_001042723.2:c.12341A>T
RYR1 transcript variant 2 NM_001042723.1:c.12341= NM_001042723.1:c.12341A>T
RYR1 transcript variant X1 XM_006723317.3:c.12338= XM_006723317.3:c.12338A>T
RYR1 transcript variant X1 XM_006723317.2:c.12338= XM_006723317.2:c.12338A>T
RYR1 transcript variant X2 XM_006723317.1:c.12338= XM_006723317.1:c.12338A>T
RYR1 transcript variant X2 XM_006723319.3:c.12323= XM_006723319.3:c.12323A>T
RYR1 transcript variant X2 XM_006723319.2:c.12323= XM_006723319.2:c.12323A>T
RYR1 transcript variant X3 XM_006723319.1:c.12323= XM_006723319.1:c.12323A>T
RYR1 transcript variant X3 XM_011527205.3:c.12356= XM_011527205.3:c.12356A>T
RYR1 transcript variant X3 XM_011527205.2:c.12356= XM_011527205.2:c.12356A>T
RYR1 transcript variant X4 XM_011527205.1:c.12356= XM_011527205.1:c.12356A>T
ryanodine receptor 1 isoform 1 NP_000531.2:p.Asn4119= NP_000531.2:p.Asn4119Ile
ryanodine receptor 1 isoform 2 NP_001036188.1:p.Asn4114= NP_001036188.1:p.Asn4114Ile
ryanodine receptor 1 isoform X1 XP_006723380.1:p.Asn4113= XP_006723380.1:p.Asn4113Ile
ryanodine receptor 1 isoform X2 XP_006723382.1:p.Asn4108= XP_006723382.1:p.Asn4108Ile
ryanodine receptor 1 isoform X3 XP_011525507.1:p.Asn4119= XP_011525507.1:p.Asn4119Ile
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#.

6 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss713514569 Apr 25, 2013 (138)
2 EVA_EXAC ss1693579388 Apr 01, 2015 (144)
3 GNOMAD ss2743960390 Nov 08, 2017 (151)
4 EVA ss3825283543 Apr 27, 2020 (154)
5 GNOMAD ss4331070715 Apr 26, 2021 (155)
6 TOPMED ss5074534267 Apr 26, 2021 (155)
7 ExAC NC_000019.9 - 39051826 Oct 12, 2018 (152)
8 gnomAD - Genomes NC_000019.10 - 38561186 Apr 26, 2021 (155)
9 gnomAD - Exomes NC_000019.9 - 39051826 Jul 13, 2019 (153)
10 GO Exome Sequencing Project NC_000019.9 - 39051826 Oct 12, 2018 (152)
11 TopMed NC_000019.10 - 38561186 Apr 26, 2021 (155)
12 ALFA NC_000019.10 - 38561186 Apr 26, 2021 (155)
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
4082500, 13274629, 1740504, ss713514569, ss1693579388, ss2743960390, ss3825283543 NC_000019.9:39051825:A:T NC_000019.10:38561185:A:T (self)
539788861, 290079931, 6952110256, ss4331070715, ss5074534267 NC_000019.10:38561185:A:T NC_000019.10:38561185:A: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 rs369637169

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