rs199473398
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199473398(C;C) |
Make rs199473398(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2570706 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199473398 |
dbSNP (classic) | rs199473398 |
ClinGen | rs199473398 |
ebi | rs199473398 |
HLI | rs199473398 |
Exac | rs199473398 |
Gnomad | rs199473398 |
Varsome | rs199473398 |
LitVar | rs199473398 |
Map | rs199473398 |
PheGenI | rs199473398 |
Biobank | rs199473398 |
1000 genomes | rs199473398 |
hgdp | rs199473398 |
ensembl | rs199473398 |
geneview | rs199473398 |
scholar | rs199473398 |
rs199473398 | |
pharmgkb | rs199473398 |
gwascentral | rs199473398 |
openSNP | rs199473398 |
23andMe | rs199473398 |
SNPshot | rs199473398 |
SNPdbe | rs199473398 |
MSV3d | rs199473398 |
GWAS Ctlg | rs199473398 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473398(A;A) rs199473398(C;C) |
Alt | rs199473398(A;A) rs199473398(C;C) |
Reference | Rs199473398(G;G) |
Significance | Untested |
Disease | Congenital long QT syndrome Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome, LQT1 subtype |
Reversed | 0 |
HGVS | NC_000011.9:g.2591936G>A; NC_000011.9:g.2591936G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057699.3, RCV000046080.2, RCV000057700.3, |