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rs121918605

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918605(A;G)
Make rs121918605(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position237784314
GeneRYR2
is asnp
is mentioned by
dbSNPrs121918605
dbSNP (classic)rs121918605
ClinGenrs121918605
ebirs121918605
HLIrs121918605
Exacrs121918605
Gnomadrs121918605
Varsomers121918605
LitVarrs121918605
Maprs121918605
PheGenIrs121918605
Biobankrs121918605
1000 genomesrs121918605
hgdprs121918605
ensemblrs121918605
geneviewrs121918605
scholarrs121918605
googlers121918605
pharmgkbrs121918605
gwascentralrs121918605
openSNPrs121918605
23andMers121918605
SNPshotrs121918605
SNPdbers121918605
MSV3drs121918605
GWAS Ctlgrs121918605
Max Magnitude0
OMIM180902
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918605(G;G)
Alt rs121918605(G;G)
Reference Rs121918605(A;A)
Significance Pathogenic
Disease Ventricular tachycardia
Variation info
Gene RYR2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 1
Reversed 0
HGVS NC_000001.10:g.237947614A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013828.17,