rs794728091
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
Make rs794728091(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 31521184 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728091 |
dbSNP (classic) | rs794728091 |
ClinGen | rs794728091 |
ebi | rs794728091 |
HLI | rs794728091 |
Exac | rs794728091 |
Gnomad | rs794728091 |
Varsome | rs794728091 |
LitVar | rs794728091 |
Map | rs794728091 |
PheGenI | rs794728091 |
Biobank | rs794728091 |
1000 genomes | rs794728091 |
hgdp | rs794728091 |
ensembl | rs794728091 |
geneview | rs794728091 |
scholar | rs794728091 |
rs794728091 | |
pharmgkb | rs794728091 |
gwascentral | rs794728091 |
openSNP | rs794728091 |
23andMe | rs794728091 |
SNPshot | rs794728091 |
SNPdbe | rs794728091 |
MSV3d | rs794728091 |
GWAS Ctlg | rs794728091 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs794728091(T;T) |
Alt | rs794728091(T;T) |
Reference | Rs794728091(-;-) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.29101147_29101148insT |
CLNSRC | |
CLNACC | RCV000181238.1, |