rs140452381
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140452381(C;T) |
Make rs140452381(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2588815 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs140452381 |
dbSNP (classic) | rs140452381 |
ClinGen | rs140452381 |
ebi | rs140452381 |
HLI | rs140452381 |
Exac | rs140452381 |
Gnomad | rs140452381 |
Varsome | rs140452381 |
LitVar | rs140452381 |
Map | rs140452381 |
PheGenI | rs140452381 |
Biobank | rs140452381 |
1000 genomes | rs140452381 |
hgdp | rs140452381 |
ensembl | rs140452381 |
geneview | rs140452381 |
scholar | rs140452381 |
rs140452381 | |
pharmgkb | rs140452381 |
gwascentral | rs140452381 |
openSNP | rs140452381 |
23andMe | rs140452381 |
SNPshot | rs140452381 |
SNPdbe | rs140452381 |
MSV3d | rs140452381 |
GWAS Ctlg | rs140452381 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140452381(T;T) |
Alt | rs140452381(T;T) |
Reference | Rs140452381(C;C) |
Significance | Untested |
Disease | Congenital long QT syndrome Long QT syndrome not specified not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome not specified not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2610045C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057582.3, RCV000148551.2, RCV000182188.2, RCV000224680.1, |