rs199473524
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Romano-Ward Long QT Syndrome |
Make rs199473524(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 150951555 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs199473524 |
dbSNP (classic) | rs199473524 |
ClinGen | rs199473524 |
ebi | rs199473524 |
HLI | rs199473524 |
Exac | rs199473524 |
Gnomad | rs199473524 |
Varsome | rs199473524 |
LitVar | rs199473524 |
Map | rs199473524 |
PheGenI | rs199473524 |
Biobank | rs199473524 |
1000 genomes | rs199473524 |
hgdp | rs199473524 |
ensembl | rs199473524 |
geneview | rs199473524 |
scholar | rs199473524 |
rs199473524 | |
pharmgkb | rs199473524 |
gwascentral | rs199473524 |
openSNP | rs199473524 |
23andMe | rs199473524 |
SNPshot | rs199473524 |
SNPdbe | rs199473524 |
MSV3d | rs199473524 |
GWAS Ctlg | rs199473524 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs199473524(T;T) |
Alt | rs199473524(T;T) |
Reference | Rs199473524(C;C) |
Significance | Other |
Disease | Congenital long QT syndrome not provided Cardiovascular phenotype |
Variation | info |
Gene | KCNH2 |
CLNDBN | Congenital long QT syndrome not provided Cardiovascular phenotype |
Reversed | 1 |
HGVS | NC_000007.13:g.150648643G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000058009.3, RCV000223761.1, RCV000244892.1, |