rs779383393
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5 | Romano-Ward Long QT Syndrome |
(T;T) | 0 | common in clinvar |
Make rs779383393(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 2585230 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs779383393 |
dbSNP (classic) | rs779383393 |
ClinGen | rs779383393 |
ebi | rs779383393 |
HLI | rs779383393 |
Exac | rs779383393 |
Gnomad | rs779383393 |
Varsome | rs779383393 |
LitVar | rs779383393 |
Map | rs779383393 |
PheGenI | rs779383393 |
Biobank | rs779383393 |
1000 genomes | rs779383393 |
hgdp | rs779383393 |
ensembl | rs779383393 |
geneview | rs779383393 |
scholar | rs779383393 |
rs779383393 | |
pharmgkb | rs779383393 |
gwascentral | rs779383393 |
openSNP | rs779383393 |
23andMe | rs779383393 |
SNPshot | rs779383393 |
SNPdbe | rs779383393 |
MSV3d | rs779383393 |
GWAS Ctlg | rs779383393 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs779383393(C;C) |
Alt | rs779383393(C;C) |
Reference | Rs779383393(T;T) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.2606460T>C |
CLNSRC | |
CLNACC | RCV000234806.2, |