rs730880347
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730880347(-;G) |
Make rs730880347(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 31536265 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880347 |
dbSNP (classic) | rs730880347 |
ClinGen | rs730880347 |
ebi | rs730880347 |
HLI | rs730880347 |
Exac | rs730880347 |
Gnomad | rs730880347 |
Varsome | rs730880347 |
LitVar | rs730880347 |
Map | rs730880347 |
PheGenI | rs730880347 |
Biobank | rs730880347 |
1000 genomes | rs730880347 |
hgdp | rs730880347 |
ensembl | rs730880347 |
geneview | rs730880347 |
scholar | rs730880347 |
rs730880347 | |
pharmgkb | rs730880347 |
gwascentral | rs730880347 |
openSNP | rs730880347 |
23andMe | rs730880347 |
SNPshot | rs730880347 |
SNPdbe | rs730880347 |
MSV3d | rs730880347 |
GWAS Ctlg | rs730880347 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880347(G;G) |
Alt | rs730880347(G;G) |
Reference | Rs730880347(-;-) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.29116228dupG |
CLNSRC | |
CLNACC | RCV000155624.2, |