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rs397516643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCA;TCA) 0 common in clinvar
Make rs397516643(AC;AC)
Make rs397516643(AC;TCA)
ReferenceGRCh38 38.1/141
Chromosome1
Position115732927
GeneCASQ2
is asnp
is mentioned by
dbSNPrs397516643
ebirs397516643
HLIrs397516643
Exacrs397516643
Varsomers397516643
Maprs397516643
PheGenIrs397516643
hapmaprs397516643
1000 genomesrs397516643
hgdprs397516643
ensemblrs397516643
gopubmedrs397516643
geneviewrs397516643
scholarrs397516643
googlers397516643
pharmgkbrs397516643
gwascentralrs397516643
openSNPrs397516643
23andMers397516643
23andMe allrs397516643
SNP Nexus

SNPshotrs397516643
SNPdbers397516643
MSV3drs397516643
GWAS Ctlgrs397516643
Max Magnitude0
ClinVar
Risk rs397516643(AC;AC)
Alt rs397516643(AC;AC)
Reference rs397516643(TCA;TCA)
Significance Probable-Pathogenic
Disease Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene CASQ2
CLNDBN Catecholaminergic polymorphic ventricular tachycardia
Reversed 1
HGVS NC_000001.10:g.116275548_116275550delTGAinsGT
CLNSRC ClinVar
CLNACC RCV000037145.2,