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rs121434550

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434550(A;A)
Make rs121434550(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position115738256
GeneCASQ2
is asnp
is mentioned by
dbSNPrs121434550
ebirs121434550
HLIrs121434550
Exacrs121434550
Varsomers121434550
Maprs121434550
PheGenIrs121434550
hapmaprs121434550
1000 genomesrs121434550
hgdprs121434550
ensemblrs121434550
gopubmedrs121434550
geneviewrs121434550
scholarrs121434550
googlers121434550
pharmgkbrs121434550
gwascentralrs121434550
openSNPrs121434550
23andMers121434550
23andMe allrs121434550
SNP Nexus

SNPshotrs121434550
SNPdbers121434550
MSV3drs121434550
GWAS Ctlgrs121434550
Max Magnitude0
OMIM114251
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434550(A;A)
Alt rs121434550(A;A)
Reference rs121434550(T;T)
Significance Pathogenic
Disease Ventricular tachycardia
Variation info
Gene CASQ2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 2
Reversed 1
HGVS NC_000001.10:g.116280877A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019178.29,