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rs397507555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507555(-;-)
Make rs397507555(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position115768480
GeneCASQ2
is asnp
is mentioned by
dbSNPrs397507555
ebirs397507555
HLIrs397507555
Exacrs397507555
Varsomers397507555
Maprs397507555
PheGenIrs397507555
hapmaprs397507555
1000 genomesrs397507555
hgdprs397507555
ensemblrs397507555
gopubmedrs397507555
geneviewrs397507555
scholarrs397507555
googlers397507555
pharmgkbrs397507555
gwascentralrs397507555
openSNPrs397507555
23andMers397507555
23andMe allrs397507555
SNP Nexus

SNPshotrs397507555
SNPdbers397507555
MSV3drs397507555
GWAS Ctlgrs397507555
Max Magnitude0
ClinVar
Risk rs397507555(;)
Alt rs397507555(;)
Reference rs397507555(A;A)
Significance Pathogenic
Disease Ventricular tachycardia
Variation info
Gene CASQ2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 2
Reversed 1
HGVS NC_000001.10:g.116311101delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000033941.2,