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rs121918598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918598(C;C)
Make rs121918598(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position237648523
GeneRYR2
is asnp
is mentioned by
dbSNPrs121918598
ebirs121918598
HLIrs121918598
Exacrs121918598
Varsomers121918598
Maprs121918598
PheGenIrs121918598
hapmaprs121918598
1000 genomesrs121918598
hgdprs121918598
ensemblrs121918598
gopubmedrs121918598
geneviewrs121918598
scholarrs121918598
googlers121918598
pharmgkbrs121918598
gwascentralrs121918598
openSNPrs121918598
23andMers121918598
23andMe allrs121918598
SNP Nexus

SNPshotrs121918598
SNPdbers121918598
MSV3drs121918598
GWAS Ctlgrs121918598
Max Magnitude0
OMIM180902
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918598(C;C)
Alt rs121918598(C;C)
Reference rs121918598(G;G)
Significance Pathogenic
Disease Ventricular tachycardia
Variation info
Gene RYR2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 1
Reversed 0
HGVS NC_000001.10:g.237811823G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013821.17,