rs1057128
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057128(A;A) |
Make rs1057128(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2776007 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057128 |
dbSNP (classic) | rs1057128 |
ClinGen | rs1057128 |
ebi | rs1057128 |
HLI | rs1057128 |
Exac | rs1057128 |
Gnomad | rs1057128 |
Varsome | rs1057128 |
LitVar | rs1057128 |
Map | rs1057128 |
PheGenI | rs1057128 |
Biobank | rs1057128 |
1000 genomes | rs1057128 |
hgdp | rs1057128 |
ensembl | rs1057128 |
geneview | rs1057128 |
scholar | rs1057128 |
rs1057128 | |
pharmgkb | rs1057128 |
gwascentral | rs1057128 |
openSNP | rs1057128 |
23andMe | rs1057128 |
SNPshot | rs1057128 |
SNPdbe | rs1057128 |
MSV3d | rs1057128 |
GWAS Ctlg | rs1057128 |
GMAF | 0.2002 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 22479571] Several Polymorphisms of KCNQ1 Gene Are Associated with Plasma Lipid Levels in General Chinese Populations
[PMID 20644730] Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells.
ClinVar | |
---|---|
Risk | rs1057128(A;A) |
Alt | rs1057128(A;A) |
Reference | Rs1057128(G;G) |
Significance | Non-pathogenic |
Disease | not specified Cardiovascular phenotype Familial atrial fibrillation Short QT syndrome Long QT syndrome Jervell and Lange-Nielsen syndrome Romano-Ward syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | not specified Cardiovascular phenotype Familial atrial fibrillation short QT syndrome Long QT syndrome Jervell and Lange-Nielsen syndrome Romano-Ward syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2797237G>A |
CLNSRC | ClinVar GeneDx |
CLNACC | RCV000035344.4, RCV000253955.1, RCV000300054.1, RCV000315174.1, RCV000368527.1, RCV000397478.1, RCV000397505.1, |