rs794728086
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
Make rs794728086(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 31538849 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728086 |
dbSNP (classic) | rs794728086 |
ClinGen | rs794728086 |
ebi | rs794728086 |
HLI | rs794728086 |
Exac | rs794728086 |
Gnomad | rs794728086 |
Varsome | rs794728086 |
LitVar | rs794728086 |
Map | rs794728086 |
PheGenI | rs794728086 |
Biobank | rs794728086 |
1000 genomes | rs794728086 |
hgdp | rs794728086 |
ensembl | rs794728086 |
geneview | rs794728086 |
scholar | rs794728086 |
rs794728086 | |
pharmgkb | rs794728086 |
gwascentral | rs794728086 |
openSNP | rs794728086 |
23andMe | rs794728086 |
SNPshot | rs794728086 |
SNPdbe | rs794728086 |
MSV3d | rs794728086 |
GWAS Ctlg | rs794728086 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs794728086(T;T) |
Alt | rs794728086(T;T) |
Reference | Rs794728086(C;C) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 10 |
Reversed | 0 |
HGVS | NC_000018.9:g.29118812C>T |
CLNSRC | |
CLNACC | RCV000227785.1, |