rs145476705
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs145476705(A;T) |
Make rs145476705(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 31087781 |
Gene | DSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs145476705 |
dbSNP (classic) | rs145476705 |
ClinGen | rs145476705 |
ebi | rs145476705 |
HLI | rs145476705 |
Exac | rs145476705 |
Gnomad | rs145476705 |
Varsome | rs145476705 |
LitVar | rs145476705 |
Map | rs145476705 |
PheGenI | rs145476705 |
Biobank | rs145476705 |
1000 genomes | rs145476705 |
hgdp | rs145476705 |
ensembl | rs145476705 |
geneview | rs145476705 |
scholar | rs145476705 |
rs145476705 | |
pharmgkb | rs145476705 |
gwascentral | rs145476705 |
openSNP | rs145476705 |
23andMe | rs145476705 |
SNPshot | rs145476705 |
SNPdbe | rs145476705 |
MSV3d | rs145476705 |
GWAS Ctlg | rs145476705 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145476705(G;G) rs145476705(T;T) |
Alt | rs145476705(G;G) rs145476705(T;T) |
Reference | Rs145476705(A;A) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSC2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy, type 11 |
Reversed | 0 |
HGVS | NC_000018.9:g.28667744A>T |
CLNSRC | |
CLNACC | RCV000149890.2, RCV000181141.1, RCV000458517.1, |