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rs397516712

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6.7 Arrhythmogenic right ventricular dysplasia
(C;C) 0 common in clinvar


Make rs397516712(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position31524815
GeneDSG2
is asnp
is mentioned by
dbSNPrs397516712
dbSNP (classic)rs397516712
ClinGenrs397516712
ebirs397516712
HLIrs397516712
Exacrs397516712
Gnomadrs397516712
Varsomers397516712
LitVarrs397516712
Maprs397516712
PheGenIrs397516712
Biobankrs397516712
1000 genomesrs397516712
hgdprs397516712
ensemblrs397516712
geneviewrs397516712
scholarrs397516712
googlers397516712
pharmgkbrs397516712
gwascentralrs397516712
openSNPrs397516712
23andMers397516712
SNPshotrs397516712
SNPdbers397516712
MSV3drs397516712
GWAS Ctlgrs397516712
Max Magnitude6.7
ClinVar
Risk rs397516712(A;A)
Alt rs397516712(A;A)
Reference Rs397516712(C;C)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSG2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 0
HGVS NC_000018.9:g.29104778C>A
CLNSRC ClinVar
CLNACC RCV000037320.2,