rs748706373
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 5 | Romano-Ward Long QT Syndrome |
(AG;AG) | 0 | common in clinvar |
Make rs748706373(-;-) |
Make rs748706373(-;GA) |
Make rs748706373(GA;GA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150947611 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs748706373 |
dbSNP (classic) | rs748706373 |
ClinGen | rs748706373 |
ebi | rs748706373 |
HLI | rs748706373 |
Exac | rs748706373 |
Gnomad | rs748706373 |
Varsome | rs748706373 |
LitVar | rs748706373 |
Map | rs748706373 |
PheGenI | rs748706373 |
Biobank | rs748706373 |
1000 genomes | rs748706373 |
hgdp | rs748706373 |
ensembl | rs748706373 |
geneview | rs748706373 |
scholar | rs748706373 |
rs748706373 | |
pharmgkb | rs748706373 |
gwascentral | rs748706373 |
openSNP | rs748706373 |
23andMe | rs748706373 |
SNPshot | rs748706373 |
SNPdbe | rs748706373 |
MSV3d | rs748706373 |
GWAS Ctlg | rs748706373 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs748706373(-;-) |
Alt | rs748706373(-;-) |
Reference | Rs748706373(AG;AG) |
Significance | Pathogenic |
Disease | not provided Cardiovascular phenotype Long QT syndrome |
Variation | info |
Gene | KCNH2 |
CLNDBN | not provided Cardiovascular phenotype Long QT syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.150644699_150644700delAG |
CLNSRC | |
CLNACC | RCV000182004.3, RCV000254145.1, RCV000471453.1, |