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rs397517404

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397517404(A;A)
Make rs397517404(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position31086694
GeneDSC2
is asnp
is mentioned by
dbSNPrs397517404
dbSNP (classic)rs397517404
ClinGenrs397517404
ebirs397517404
HLIrs397517404
Exacrs397517404
Gnomadrs397517404
Varsomers397517404
LitVarrs397517404
Maprs397517404
PheGenIrs397517404
Biobankrs397517404
1000 genomesrs397517404
hgdprs397517404
ensemblrs397517404
geneviewrs397517404
scholarrs397517404
googlers397517404
pharmgkbrs397517404
gwascentralrs397517404
openSNPrs397517404
23andMers397517404
SNPshotrs397517404
SNPdbers397517404
MSV3drs397517404
GWAS Ctlgrs397517404
Max Magnitude0
ClinVar
Risk rs397517404(A;A) rs397517404(T;T)
Alt rs397517404(A;A) rs397517404(T;T)
Reference Rs397517404(C;C)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy not specified
Variation info
Gene DSC2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy not specified
Reversed 1
HGVS NC_000018.9:g.28666657G>A; NC_000018.9:g.28666657G>T
CLNSRC
CLNACC RCV000208003.1, RCV000039440.2,