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rs397517393

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.7 Arrhythmogenic right ventricular dysplasia
(G;G) 0 common in clinvar


Make rs397517393(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position31093558
GeneDSC2
is asnp
is mentioned by
dbSNPrs397517393
dbSNP (classic)rs397517393
ClinGenrs397517393
ebirs397517393
HLIrs397517393
Exacrs397517393
Gnomadrs397517393
Varsomers397517393
LitVarrs397517393
Maprs397517393
PheGenIrs397517393
Biobankrs397517393
1000 genomesrs397517393
hgdprs397517393
ensemblrs397517393
geneviewrs397517393
scholarrs397517393
googlers397517393
pharmgkbrs397517393
gwascentralrs397517393
openSNPrs397517393
23andMers397517393
SNPshotrs397517393
SNPdbers397517393
MSV3drs397517393
GWAS Ctlgrs397517393
Max Magnitude6.7
ClinVar
Risk rs397517393(A;A)
Alt rs397517393(A;A)
Reference Rs397517393(G;G)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSC2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000018.9:g.28673521C>T
CLNSRC ClinVar
CLNACC RCV000039409.2,