Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514043

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514043(-;-)
Make rs397514043(-;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31074730
GeneDSC2
is asnp
is mentioned by
dbSNPrs397514043
ebirs397514043
HLIrs397514043
Exacrs397514043
Varsomers397514043
Maprs397514043
PheGenIrs397514043
hapmaprs397514043
1000 genomesrs397514043
hgdprs397514043
ensemblrs397514043
gopubmedrs397514043
geneviewrs397514043
scholarrs397514043
googlers397514043
pharmgkbrs397514043
gwascentralrs397514043
openSNPrs397514043
23andMers397514043
23andMe allrs397514043
SNP Nexus

SNPshotrs397514043
SNPdbers397514043
MSV3drs397514043
GWAS Ctlgrs397514043
Max Magnitude0
ClinVar
Risk rs397514043(;)
Alt rs397514043(;)
Reference rs397514043(G;G)
Significance Pathogenic
Disease Arrhythmogenic right ventricular dysplasia
Variation info
Gene DSC2
CLNDBN Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair
Reversed 1
HGVS NC_000018.9:g.28654696delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000024331.28,