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rs121918606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918606(C;G)
Make rs121918606(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position237819181
GeneRYR2
is asnp
is mentioned by
dbSNPrs121918606
dbSNP (classic)rs121918606
ClinGenrs121918606
ebirs121918606
HLIrs121918606
Exacrs121918606
Gnomadrs121918606
Varsomers121918606
LitVarrs121918606
Maprs121918606
PheGenIrs121918606
Biobankrs121918606
1000 genomesrs121918606
hgdprs121918606
ensemblrs121918606
geneviewrs121918606
scholarrs121918606
googlers121918606
pharmgkbrs121918606
gwascentralrs121918606
openSNPrs121918606
23andMers121918606
SNPshotrs121918606
SNPdbers121918606
MSV3drs121918606
GWAS Ctlgrs121918606
Max Magnitude0
OMIM180902
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918606(G;G)
Alt rs121918606(G;G)
Reference Rs121918606(C;C)
Significance Pathogenic
Disease Ventricular tachycardia
Variation info
Gene RYR2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 1
Reversed 0
HGVS NC_000001.10:g.237982481C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013829.22,