rs750176752
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(G;G) | 0 | common in clinvar |
Make rs750176752(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 18 |
Position | 31522250 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs750176752 |
dbSNP (classic) | rs750176752 |
ClinGen | rs750176752 |
ebi | rs750176752 |
HLI | rs750176752 |
Exac | rs750176752 |
Gnomad | rs750176752 |
Varsome | rs750176752 |
LitVar | rs750176752 |
Map | rs750176752 |
PheGenI | rs750176752 |
Biobank | rs750176752 |
1000 genomes | rs750176752 |
hgdp | rs750176752 |
ensembl | rs750176752 |
geneview | rs750176752 |
scholar | rs750176752 |
rs750176752 | |
pharmgkb | rs750176752 |
gwascentral | rs750176752 |
openSNP | rs750176752 |
23andMe | rs750176752 |
SNPshot | rs750176752 |
SNPdbe | rs750176752 |
MSV3d | rs750176752 |
GWAS Ctlg | rs750176752 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs750176752(A;A) |
Alt | rs750176752(A;A) |
Reference | Rs750176752(G;G) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 10 |
Reversed | 0 |
HGVS | NC_000018.9:g.29102213G>A |
CLNSRC | |
CLNACC | RCV000473344.1, |