rs145229963
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs145229963(A;A) |
| Make rs145229963(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 2588816 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145229963 |
| dbSNP (classic) | rs145229963 |
| ClinGen | rs145229963 |
| ebi | rs145229963 |
| HLI | rs145229963 |
| Exac | rs145229963 |
| Gnomad | rs145229963 |
| Varsome | rs145229963 |
| LitVar | rs145229963 |
| Map | rs145229963 |
| PheGenI | rs145229963 |
| Biobank | rs145229963 |
| 1000 genomes | rs145229963 |
| hgdp | rs145229963 |
| ensembl | rs145229963 |
| geneview | rs145229963 |
| scholar | rs145229963 |
| rs145229963 | |
| pharmgkb | rs145229963 |
| gwascentral | rs145229963 |
| openSNP | rs145229963 |
| 23andMe | rs145229963 |
| SNPshot | rs145229963 |
| SNPdbe | rs145229963 |
| MSV3d | rs145229963 |
| GWAS Ctlg | rs145229963 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs145229963(A;A) rs145229963(T;T) |
| Alt | rs145229963(A;A) rs145229963(T;T) |
| Reference | Rs145229963(G;G) |
| Significance | Pathogenic |
| Disease | not provided not specified Cardiovascular phenotype Romano-Ward syndrome Long QT syndrome Familial atrial fibrillation Jervell and Lange-Nielsen syndrome Short QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | not provided not specified Cardiovascular phenotype Romano-Ward syndrome Long QT syndrome Familial atrial fibrillation Jervell and Lange-Nielsen syndrome short QT syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2610046G>A; NC_000011.9:g.2610046G>T |
| CLNSRC | |
| CLNACC | RCV000057583.3, RCV000182189.3, RCV000246256.1, RCV000284895.1, RCV000297971.1, RCV000337547.1, RCV000355198.1, RCV000398200.1, RCV000182318.1, |
