rs794728513
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 5 | Romano-Ward Long QT Syndrome |
Make rs794728513(C;T) |
Make rs794728513(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2572087 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs794728513 |
dbSNP (classic) | rs794728513 |
ClinGen | rs794728513 |
ebi | rs794728513 |
HLI | rs794728513 |
Exac | rs794728513 |
Gnomad | rs794728513 |
Varsome | rs794728513 |
LitVar | rs794728513 |
Map | rs794728513 |
PheGenI | rs794728513 |
Biobank | rs794728513 |
1000 genomes | rs794728513 |
hgdp | rs794728513 |
ensembl | rs794728513 |
geneview | rs794728513 |
scholar | rs794728513 |
rs794728513 | |
pharmgkb | rs794728513 |
gwascentral | rs794728513 |
openSNP | rs794728513 |
23andMe | rs794728513 |
SNPshot | rs794728513 |
SNPdbe | rs794728513 |
MSV3d | rs794728513 |
GWAS Ctlg | rs794728513 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs794728513(G;G) rs794728513(T;T) |
Alt | rs794728513(G;G) rs794728513(T;T) |
Reference | Rs794728513(C;C) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome 1 not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2593317C>G; NC_000011.9:g.2593317C>T |
CLNSRC | |
CLNACC | RCV000234788.1, RCV000182108.2, |