rs397516703
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TG) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(TG;TG) | 0 | common in clinvar |
Make rs397516703(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31538872 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516703 |
dbSNP (classic) | rs397516703 |
ClinGen | rs397516703 |
ebi | rs397516703 |
HLI | rs397516703 |
Exac | rs397516703 |
Gnomad | rs397516703 |
Varsome | rs397516703 |
LitVar | rs397516703 |
Map | rs397516703 |
PheGenI | rs397516703 |
Biobank | rs397516703 |
1000 genomes | rs397516703 |
hgdp | rs397516703 |
ensembl | rs397516703 |
geneview | rs397516703 |
scholar | rs397516703 |
rs397516703 | |
pharmgkb | rs397516703 |
gwascentral | rs397516703 |
openSNP | rs397516703 |
23andMe | rs397516703 |
SNPshot | rs397516703 |
SNPdbe | rs397516703 |
MSV3d | rs397516703 |
GWAS Ctlg | rs397516703 |
Max Magnitude | 6.7 |
aka c.1771_1772delTG
ClinVar | |
---|---|
Risk | rs397516703(-;-) |
Alt | rs397516703(-;-) |
Reference | Rs397516703(TG;TG) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided |
Variation | info |
Gene | DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.29118835_29118836delTG |
CLNSRC | ClinVar |
CLNACC | RCV000037271.3, RCV000181243.1, |