rs199472793
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199472793(C;T) |
Make rs199472793(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2775966 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199472793 |
dbSNP (classic) | rs199472793 |
ClinGen | rs199472793 |
ebi | rs199472793 |
HLI | rs199472793 |
Exac | rs199472793 |
Gnomad | rs199472793 |
Varsome | rs199472793 |
LitVar | rs199472793 |
Map | rs199472793 |
PheGenI | rs199472793 |
Biobank | rs199472793 |
1000 genomes | rs199472793 |
hgdp | rs199472793 |
ensembl | rs199472793 |
geneview | rs199472793 |
scholar | rs199472793 |
rs199472793 | |
pharmgkb | rs199472793 |
gwascentral | rs199472793 |
openSNP | rs199472793 |
23andMe | rs199472793 |
SNPshot | rs199472793 |
SNPdbe | rs199472793 |
MSV3d | rs199472793 |
GWAS Ctlg | rs199472793 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199472793(T;T) |
Alt | rs199472793(T;T) |
Reference | Rs199472793(C;C) |
Significance | Pathogenic |
Disease | Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2797196C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057603.3, RCV000234802.1, RCV000456908.1, |