rs179489
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 5 | Romano-Ward Long QT Syndrome |
(C;T) | 5 | Romano-Ward Long QT Syndrome |
Make rs179489(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2570652 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs179489 |
dbSNP (classic) | rs179489 |
ClinGen | rs179489 |
ebi | rs179489 |
HLI | rs179489 |
Exac | rs179489 |
Gnomad | rs179489 |
Varsome | rs179489 |
LitVar | rs179489 |
Map | rs179489 |
PheGenI | rs179489 |
Biobank | rs179489 |
1000 genomes | rs179489 |
hgdp | rs179489 |
ensembl | rs179489 |
geneview | rs179489 |
scholar | rs179489 |
rs179489 | |
pharmgkb | rs179489 |
gwascentral | rs179489 |
openSNP | rs179489 |
23andMe | rs179489 |
SNPshot | rs179489 |
SNPdbe | rs179489 |
MSV3d | rs179489 |
GWAS Ctlg | rs179489 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs179489(G;G) rs179489(T;T) |
Alt | rs179489(G;G) rs179489(T;T) |
Reference | Rs179489(C;C) |
Significance | Pathogenic |
Disease | Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome 1 Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome 1 Long QT syndrome, LQT1 subtype |
Reversed | 1 |
HGVS | NC_000011.9:g.2591882G>A; NC_000011.9:g.2591882G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000046066.3, RCV000057684.3, RCV000223900.1, RCV000234807.1, RCV000046067.2, RCV000057685.3, RCV000182077.3, |