rs794728504
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794728504(-;-) |
Make rs794728504(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150947463 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728504 |
dbSNP (classic) | rs794728504 |
ClinGen | rs794728504 |
ebi | rs794728504 |
HLI | rs794728504 |
Exac | rs794728504 |
Gnomad | rs794728504 |
Varsome | rs794728504 |
LitVar | rs794728504 |
Map | rs794728504 |
PheGenI | rs794728504 |
Biobank | rs794728504 |
1000 genomes | rs794728504 |
hgdp | rs794728504 |
ensembl | rs794728504 |
geneview | rs794728504 |
scholar | rs794728504 |
rs794728504 | |
pharmgkb | rs794728504 |
gwascentral | rs794728504 |
openSNP | rs794728504 |
23andMe | rs794728504 |
SNPshot | rs794728504 |
SNPdbe | rs794728504 |
MSV3d | rs794728504 |
GWAS Ctlg | rs794728504 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728504(-;-) |
Alt | rs794728504(-;-) |
Reference | Rs794728504(G;G) |
Significance | Pathogenic |
Disease | not provided Long QT syndrome |
Variation | info |
Gene | KCNH2 |
CLNDBN | not provided Long QT syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.150644551delC |
CLNSRC | |
CLNACC | RCV000182063.3, RCV000461198.1, |