Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918599(C;G)
Make rs121918599(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position237784024
GeneRYR2
is asnp
is mentioned by
dbSNPrs121918599
dbSNP (classic)rs121918599
ClinGenrs121918599
ebirs121918599
HLIrs121918599
Exacrs121918599
Gnomadrs121918599
Varsomers121918599
LitVarrs121918599
Maprs121918599
PheGenIrs121918599
Biobankrs121918599
1000 genomesrs121918599
hgdprs121918599
ensemblrs121918599
geneviewrs121918599
scholarrs121918599
googlers121918599
pharmgkbrs121918599
gwascentralrs121918599
openSNPrs121918599
23andMers121918599
SNPshotrs121918599
SNPdbers121918599
MSV3drs121918599
GWAS Ctlgrs121918599
Max Magnitude0
OMIM180902
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918599(G;G)
Alt rs121918599(G;G)
Reference Rs121918599(C;C)
Significance Pathogenic
Disease Ventricular tachycardia
Variation info
Gene RYR2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 1
Reversed 0
HGVS NC_000001.10:g.237947324C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013822.23,