rs796052166
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 5 | Romano-Ward Long QT Syndrome |
(T;T) | 0 | common in clinvar |
Make rs796052166(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2571405 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs796052166 |
dbSNP (classic) | rs796052166 |
ClinGen | rs796052166 |
ebi | rs796052166 |
HLI | rs796052166 |
Exac | rs796052166 |
Gnomad | rs796052166 |
Varsome | rs796052166 |
LitVar | rs796052166 |
Map | rs796052166 |
PheGenI | rs796052166 |
Biobank | rs796052166 |
1000 genomes | rs796052166 |
hgdp | rs796052166 |
ensembl | rs796052166 |
geneview | rs796052166 |
scholar | rs796052166 |
rs796052166 | |
pharmgkb | rs796052166 |
gwascentral | rs796052166 |
openSNP | rs796052166 |
23andMe | rs796052166 |
SNPshot | rs796052166 |
SNPdbe | rs796052166 |
MSV3d | rs796052166 |
GWAS Ctlg | rs796052166 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs796052166(G;G) |
Alt | rs796052166(G;G) |
Reference | Rs796052166(T;T) |
Significance | Probable-Pathogenic |
Disease | Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2592635T>G |
CLNSRC | |
CLNACC | RCV000190163.1, |