rs397508126
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TCT) | 5 | Romano-Ward Long QT Syndrome |
(TCT;TCT) | 0 | common in clinvar |
Make rs397508126(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2572889 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508126 |
dbSNP (classic) | rs397508126 |
ClinGen | rs397508126 |
ebi | rs397508126 |
HLI | rs397508126 |
Exac | rs397508126 |
Gnomad | rs397508126 |
Varsome | rs397508126 |
LitVar | rs397508126 |
Map | rs397508126 |
PheGenI | rs397508126 |
Biobank | rs397508126 |
1000 genomes | rs397508126 |
hgdp | rs397508126 |
ensembl | rs397508126 |
geneview | rs397508126 |
scholar | rs397508126 |
rs397508126 | |
pharmgkb | rs397508126 |
gwascentral | rs397508126 |
openSNP | rs397508126 |
23andMe | rs397508126 |
SNPshot | rs397508126 |
SNPdbe | rs397508126 |
MSV3d | rs397508126 |
GWAS Ctlg | rs397508126 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs397508126(-;-) |
Alt | rs397508126(-;-) |
Reference | Rs397508126(TCT;TCT) |
Significance | Pathogenic |
Disease | Long QT syndrome Long QT syndrome 1 |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype Long QT syndrome 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.2594119_2594121delTCT |
CLNSRC | ClinVar |
CLNACC | RCV000046138.2, RCV000239632.1, |