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, |
