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rs151024019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs151024019(A;C)
Make rs151024019(C;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position31070782
GeneDSC2
is asnp
is mentioned by
dbSNPrs151024019
ebirs151024019
HLIrs151024019
Exacrs151024019
Varsomers151024019
Maprs151024019
PheGenIrs151024019
hapmaprs151024019
1000 genomesrs151024019
hgdprs151024019
ensemblrs151024019
gopubmedrs151024019
geneviewrs151024019
scholarrs151024019
googlers151024019
pharmgkbrs151024019
gwascentralrs151024019
openSNPrs151024019
23andMers151024019
23andMe allrs151024019
SNP Nexus

SNPshotrs151024019
SNPdbers151024019
MSV3drs151024019
GWAS Ctlgrs151024019
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs151024019(C;C)
Alt rs151024019(C;C)
Reference rs151024019(A;A)
Significance Other
Disease Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic right ventricular dysplasia/cardiomyopathy Primary familial hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSC2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic right ventricular dysplasia/cardiomyopathy Primary familial hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy, type 11
Reversed 0
HGVS NC_000018.9:g.28650748A>C
CLNSRC ClinVar LabCorp University of Washington
CLNACC RCV000029663.2, RCV000039419.3, RCV000148468.3, RCV000157173.1, RCV000233024.1,


[PMID 20031616] Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.