rs150172393
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs150172393(C;T) |
Make rs150172393(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2570733 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs150172393 |
dbSNP (classic) | rs150172393 |
ClinGen | rs150172393 |
ebi | rs150172393 |
HLI | rs150172393 |
Exac | rs150172393 |
Gnomad | rs150172393 |
Varsome | rs150172393 |
LitVar | rs150172393 |
Map | rs150172393 |
PheGenI | rs150172393 |
Biobank | rs150172393 |
1000 genomes | rs150172393 |
hgdp | rs150172393 |
ensembl | rs150172393 |
geneview | rs150172393 |
scholar | rs150172393 |
rs150172393 | |
pharmgkb | rs150172393 |
gwascentral | rs150172393 |
openSNP | rs150172393 |
23andMe | rs150172393 |
SNPshot | rs150172393 |
SNPdbe | rs150172393 |
MSV3d | rs150172393 |
GWAS Ctlg | rs150172393 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150172393(T;T) |
Alt | rs150172393(T;T) |
Reference | Rs150172393(C;C) |
Significance | Untested |
Disease | Congenital long QT syndrome Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2591963C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057713.3, RCV000148554.2, |