rs794728583
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs794728583(-;T) |
Make rs794728583(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2445462 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs794728583 |
dbSNP (classic) | rs794728583 |
ClinGen | rs794728583 |
ebi | rs794728583 |
HLI | rs794728583 |
Exac | rs794728583 |
Gnomad | rs794728583 |
Varsome | rs794728583 |
LitVar | rs794728583 |
Map | rs794728583 |
PheGenI | rs794728583 |
Biobank | rs794728583 |
1000 genomes | rs794728583 |
hgdp | rs794728583 |
ensembl | rs794728583 |
geneview | rs794728583 |
scholar | rs794728583 |
rs794728583 | |
pharmgkb | rs794728583 |
gwascentral | rs794728583 |
openSNP | rs794728583 |
23andMe | rs794728583 |
SNPshot | rs794728583 |
SNPdbe | rs794728583 |
MSV3d | rs794728583 |
GWAS Ctlg | rs794728583 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728583(T;T) |
Alt | rs794728583(T;T) |
Reference | Rs794728583(-;-) |
Significance | Pathogenic |
Disease | not provided Long QT syndrome 1 |
Variation | info |
Gene | KCNQ1 |
CLNDBN | not provided Long QT syndrome 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.2466692dupT |
CLNSRC | |
CLNACC | RCV000182336.2, RCV000193564.1, |