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rs121918600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918600(C;T)
Make rs121918600(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position237791441
GeneRYR2
is asnp
is mentioned by
dbSNPrs121918600
dbSNP (classic)rs121918600
ClinGenrs121918600
ebirs121918600
HLIrs121918600
Exacrs121918600
Gnomadrs121918600
Varsomers121918600
LitVarrs121918600
Maprs121918600
PheGenIrs121918600
Biobankrs121918600
1000 genomesrs121918600
hgdprs121918600
ensemblrs121918600
geneviewrs121918600
scholarrs121918600
googlers121918600
pharmgkbrs121918600
gwascentralrs121918600
openSNPrs121918600
23andMers121918600
SNPshotrs121918600
SNPdbers121918600
MSV3drs121918600
GWAS Ctlgrs121918600
Max Magnitude0
OMIM180902
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918600(T;T)
Alt rs121918600(T;T)
Reference Rs121918600(C;C)
Significance Pathogenic
Disease Ventricular tachycardia not provided
Variation info
Gene RYR2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 1 not provided
Reversed 0
HGVS NC_000001.10:g.237954741C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013823.23, RCV000478561.1,