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rs121434549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434549(C;C)
Make rs121434549(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position115705212
GeneCASQ2
is asnp
is mentioned by
dbSNPrs121434549
ebirs121434549
HLIrs121434549
Exacrs121434549
Varsomers121434549
Maprs121434549
PheGenIrs121434549
hapmaprs121434549
1000 genomesrs121434549
hgdprs121434549
ensemblrs121434549
gopubmedrs121434549
geneviewrs121434549
scholarrs121434549
googlers121434549
pharmgkbrs121434549
gwascentralrs121434549
openSNPrs121434549
23andMers121434549
23andMe allrs121434549
SNP Nexus

SNPshotrs121434549
SNPdbers121434549
MSV3drs121434549
GWAS Ctlgrs121434549
Max Magnitude0
OMIM114251
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434549(A,C;A,C)
Alt rs121434549(A,C;A,C)
Reference rs121434549(G;G)
Significance Pathogenic
Disease Ventricular tachycardia
Variation info
Gene CASQ2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 2
Reversed 1
HGVS NC_000001.10:g.116247833C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019176.27,