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rs397514042

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514042(A;G)
Make rs397514042(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31087815
GeneDSC2
is asnp
is mentioned by
dbSNPrs397514042
dbSNP (classic)rs397514042
ClinGenrs397514042
ebirs397514042
HLIrs397514042
Exacrs397514042
Gnomadrs397514042
Varsomers397514042
LitVarrs397514042
Maprs397514042
PheGenIrs397514042
Biobankrs397514042
1000 genomesrs397514042
hgdprs397514042
ensemblrs397514042
geneviewrs397514042
scholarrs397514042
googlers397514042
pharmgkbrs397514042
gwascentralrs397514042
openSNPrs397514042
23andMers397514042
SNPshotrs397514042
SNPdbers397514042
MSV3drs397514042
GWAS Ctlgrs397514042
Max Magnitude0
ClinVar
Risk rs397514042(G;G)
Alt rs397514042(G;G)
Reference Rs397514042(A;A)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSC2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 11 not provided Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000018.9:g.28667778T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018344.26, RCV000181140.1, RCV000211713.1,