rs397508115
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397508115(C;GG) |
Make rs397508115(GG;GG) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2570683 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508115 |
dbSNP (classic) | rs397508115 |
ClinGen | rs397508115 |
ebi | rs397508115 |
HLI | rs397508115 |
Exac | rs397508115 |
Gnomad | rs397508115 |
Varsome | rs397508115 |
LitVar | rs397508115 |
Map | rs397508115 |
PheGenI | rs397508115 |
Biobank | rs397508115 |
1000 genomes | rs397508115 |
hgdp | rs397508115 |
ensembl | rs397508115 |
geneview | rs397508115 |
scholar | rs397508115 |
rs397508115 | |
pharmgkb | rs397508115 |
gwascentral | rs397508115 |
openSNP | rs397508115 |
23andMe | rs397508115 |
SNPshot | rs397508115 |
SNPdbe | rs397508115 |
MSV3d | rs397508115 |
GWAS Ctlg | rs397508115 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397508115(GG;GG) |
Alt | rs397508115(GG;GG) |
Reference | Rs397508115(C;C) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome 1 Long QT syndrome, LQT1 subtype |
Reversed | 0 |
HGVS | NC_000011.9:g.2591913delCinsGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003297.3, RCV000046077.2, |