rs794728497
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs794728497(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150952840 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728497 |
dbSNP (classic) | rs794728497 |
ClinGen | rs794728497 |
ebi | rs794728497 |
HLI | rs794728497 |
Exac | rs794728497 |
Gnomad | rs794728497 |
Varsome | rs794728497 |
LitVar | rs794728497 |
Map | rs794728497 |
PheGenI | rs794728497 |
Biobank | rs794728497 |
1000 genomes | rs794728497 |
hgdp | rs794728497 |
ensembl | rs794728497 |
geneview | rs794728497 |
scholar | rs794728497 |
rs794728497 | |
pharmgkb | rs794728497 |
gwascentral | rs794728497 |
openSNP | rs794728497 |
23andMe | rs794728497 |
SNPshot | rs794728497 |
SNPdbe | rs794728497 |
MSV3d | rs794728497 |
GWAS Ctlg | rs794728497 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs794728497(-;-) |
Alt | rs794728497(-;-) |
Reference | Rs794728497(G;G) |
Significance | Pathogenic |
Disease | Cardiac arrhythmia |
Variation | info |
Gene | KCNH2 |
CLNDBN | Cardiac arrhythmia |
Reversed | 1 |
HGVS | NC_000007.13:g.150649928delC |
CLNSRC | |
CLNACC | RCV000182056.1, |