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rs397514041

From SNPedia

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


Make rs397514041(-;-)
ReferenceGRCh38 38.1/141
Chromosome18
Position31080186
GeneDSC2
is asnp
is mentioned by
dbSNPrs397514041
dbSNP (classic)rs397514041
ClinGenrs397514041
ebirs397514041
HLIrs397514041
Exacrs397514041
Gnomadrs397514041
Varsomers397514041
LitVarrs397514041
Maprs397514041
PheGenIrs397514041
Biobankrs397514041
1000 genomesrs397514041
hgdprs397514041
ensemblrs397514041
geneviewrs397514041
scholarrs397514041
googlers397514041
pharmgkbrs397514041
gwascentralrs397514041
openSNPrs397514041
23andMers397514041
SNPshotrs397514041
SNPdbers397514041
MSV3drs397514041
GWAS Ctlgrs397514041
Max Magnitude6.7
ClinVar
Risk rs397514041(-;-)
Alt rs397514041(-;-)
Reference Rs397514041(C;C)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSC2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 11
Reversed 1
HGVS NC_000018.9:g.28660152delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000018342.28,