rs151024019
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs151024019(A;C) |
Make rs151024019(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31070782 |
Gene | DSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs151024019 |
dbSNP (classic) | rs151024019 |
ClinGen | rs151024019 |
ebi | rs151024019 |
HLI | rs151024019 |
Exac | rs151024019 |
Gnomad | rs151024019 |
Varsome | rs151024019 |
LitVar | rs151024019 |
Map | rs151024019 |
PheGenI | rs151024019 |
Biobank | rs151024019 |
1000 genomes | rs151024019 |
hgdp | rs151024019 |
ensembl | rs151024019 |
geneview | rs151024019 |
scholar | rs151024019 |
rs151024019 | |
pharmgkb | rs151024019 |
gwascentral | rs151024019 |
openSNP | rs151024019 |
23andMe | rs151024019 |
SNPshot | rs151024019 |
SNPdbe | rs151024019 |
MSV3d | rs151024019 |
GWAS Ctlg | rs151024019 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
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, RCV000039419.4, RCV000148468.3, RCV000157173.1, RCV000233024.2, |
[PMID 20031616] Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.