rs199472999
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs199472999(C;C) |
Make rs199472999(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 150949034 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs199472999 |
dbSNP (classic) | rs199472999 |
ClinGen | rs199472999 |
ebi | rs199472999 |
HLI | rs199472999 |
Exac | rs199472999 |
Gnomad | rs199472999 |
Varsome | rs199472999 |
LitVar | rs199472999 |
Map | rs199472999 |
PheGenI | rs199472999 |
Biobank | rs199472999 |
1000 genomes | rs199472999 |
hgdp | rs199472999 |
ensembl | rs199472999 |
geneview | rs199472999 |
scholar | rs199472999 |
rs199472999 | |
pharmgkb | rs199472999 |
gwascentral | rs199472999 |
openSNP | rs199472999 |
23andMe | rs199472999 |
SNPshot | rs199472999 |
SNPdbe | rs199472999 |
MSV3d | rs199472999 |
GWAS Ctlg | rs199472999 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199472999(C;C) rs199472999(G;G) |
Alt | rs199472999(C;C) rs199472999(G;G) |
Reference | Rs199472999(T;T) |
Significance | Pathogenic |
Disease | Congenital long QT syndrome not provided Long QT syndrome |
Variation | info |
Gene | KCNH2 |
CLNDBN | Congenital long QT syndrome not provided Long QT syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.150646122A>C; NC_000007.13:g.150646122A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000058119.2, RCV000181862.1, RCV000474113.1, RCV000058118.2, RCV000182046.1, |