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rs397514041

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514041(-;-)
Make rs397514041(-;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position31080186
GeneDSC2
is asnp
is mentioned by
dbSNPrs397514041
ebirs397514041
HLIrs397514041
Exacrs397514041
Varsomers397514041
Maprs397514041
PheGenIrs397514041
hapmaprs397514041
1000 genomesrs397514041
hgdprs397514041
ensemblrs397514041
gopubmedrs397514041
geneviewrs397514041
scholarrs397514041
googlers397514041
pharmgkbrs397514041
gwascentralrs397514041
openSNPrs397514041
23andMers397514041
23andMe allrs397514041
SNP Nexus

SNPshotrs397514041
SNPdbers397514041
MSV3drs397514041
GWAS Ctlgrs397514041
Max Magnitude0
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,