rs199472902
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Romano-Ward Long QT Syndrome |
Make rs199472902(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 150952630 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs199472902 |
dbSNP (classic) | rs199472902 |
ClinGen | rs199472902 |
ebi | rs199472902 |
HLI | rs199472902 |
Exac | rs199472902 |
Gnomad | rs199472902 |
Varsome | rs199472902 |
LitVar | rs199472902 |
Map | rs199472902 |
PheGenI | rs199472902 |
Biobank | rs199472902 |
1000 genomes | rs199472902 |
hgdp | rs199472902 |
ensembl | rs199472902 |
geneview | rs199472902 |
scholar | rs199472902 |
rs199472902 | |
pharmgkb | rs199472902 |
gwascentral | rs199472902 |
openSNP | rs199472902 |
23andMe | rs199472902 |
SNPshot | rs199472902 |
SNPdbe | rs199472902 |
MSV3d | rs199472902 |
GWAS Ctlg | rs199472902 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs199472902(T;T) |
Alt | rs199472902(T;T) |
Reference | Rs199472902(C;C) |
Significance | Probable-Pathogenic |
Disease | Congenital long QT syndrome Long QT syndrome 2 |
Variation | info |
Gene | KCNH2 |
CLNDBN | Congenital long QT syndrome Long QT syndrome 2 |
Reversed | 1 |
HGVS | NC_000007.13:g.150649718G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057897.3, RCV000208345.1, |