rs199472693
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199472693(C;G) |
Make rs199472693(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2570656 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199472693 |
dbSNP (classic) | rs199472693 |
ClinGen | rs199472693 |
ebi | rs199472693 |
HLI | rs199472693 |
Exac | rs199472693 |
Gnomad | rs199472693 |
Varsome | rs199472693 |
LitVar | rs199472693 |
Map | rs199472693 |
PheGenI | rs199472693 |
Biobank | rs199472693 |
1000 genomes | rs199472693 |
hgdp | rs199472693 |
ensembl | rs199472693 |
geneview | rs199472693 |
scholar | rs199472693 |
rs199472693 | |
pharmgkb | rs199472693 |
gwascentral | rs199472693 |
openSNP | rs199472693 |
23andMe | rs199472693 |
SNPshot | rs199472693 |
SNPdbe | rs199472693 |
MSV3d | rs199472693 |
GWAS Ctlg | rs199472693 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199472693(G;G) rs199472693(T;T) |
Alt | rs199472693(G;G) rs199472693(T;T) |
Reference | Rs199472693(C;C) |
Significance | Untested |
Disease | Long QT syndrome Congenital long QT syndrome Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2591886C>G; NC_000011.9:g.2591886C>T |
CLNSRC | ClinVar |
CLNACC | RCV000046069.2, RCV000057686.3, RCV000457132.1, |