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rs41315858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41315858(A;A)
Make rs41315858(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position237614782
GeneRYR2
is asnp
is mentioned by
dbSNPrs41315858
ebirs41315858
HLIrs41315858
Exacrs41315858
Varsomers41315858
Maprs41315858
PheGenIrs41315858
hapmaprs41315858
1000 genomesrs41315858
hgdprs41315858
ensemblrs41315858
gopubmedrs41315858
geneviewrs41315858
scholarrs41315858
googlers41315858
pharmgkbrs41315858
gwascentralrs41315858
openSNPrs41315858
23andMers41315858
23andMe allrs41315858
SNP Nexus

SNPshotrs41315858
SNPdbers41315858
MSV3drs41315858
GWAS Ctlgrs41315858
GMAF0.01837
Max Magnitude0
ClinVar
Risk rs41315858(A,C;A,C)
Alt rs41315858(A,C;A,C)
Reference rs41315858(G;G)
Significance Non-pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene RYR2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia
Reversed 0
HGVS NC_000001.10:g.237778082G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030425.1, RCV000036770.4, RCV000238788.1,



[PMID 19709828] Genetic variability of RyR2 and CASQ2 genes in an Asian population.

[PMID 18326664OA-icon.png] ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor.

[PMID 16769042] Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.

[PMID 11159936] Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).


GET Evidence
RYR2-G1885E
aa_change Gly1885Glu
aa_change_short G1885E
impact pathogenic
qualified_impact High clinical importance, Uncertain pathogenic
overall_frequency 0.0179176
summary Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.