rs553299589
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(C;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(G;G) | 0 | common in clinvar |
Make rs553299589(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 31521244 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs553299589 |
dbSNP (classic) | rs553299589 |
ClinGen | rs553299589 |
ebi | rs553299589 |
HLI | rs553299589 |
Exac | rs553299589 |
Gnomad | rs553299589 |
Varsome | rs553299589 |
LitVar | rs553299589 |
Map | rs553299589 |
PheGenI | rs553299589 |
Biobank | rs553299589 |
1000 genomes | rs553299589 |
hgdp | rs553299589 |
ensembl | rs553299589 |
geneview | rs553299589 |
scholar | rs553299589 |
rs553299589 | |
pharmgkb | rs553299589 |
gwascentral | rs553299589 |
openSNP | rs553299589 |
23andMe | rs553299589 |
SNPshot | rs553299589 |
SNPdbe | rs553299589 |
MSV3d | rs553299589 |
GWAS Ctlg | rs553299589 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs553299589(A;A) rs553299589(C;C) rs553299589(T;T) |
Alt | rs553299589(A;A) rs553299589(C;C) rs553299589(T;T) |
Reference | Rs553299589(G;G) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.29101207G>A; NC_000018.9:g.29101207G>C |
CLNSRC | |
CLNACC | RCV000168625.2, RCV000168629.2, |