rs397508079
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs397508079(-;T) |
| Make rs397508079(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2587590 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508079 |
| dbSNP (classic) | rs397508079 |
| ClinGen | rs397508079 |
| ebi | rs397508079 |
| HLI | rs397508079 |
| Exac | rs397508079 |
| Gnomad | rs397508079 |
| Varsome | rs397508079 |
| LitVar | rs397508079 |
| Map | rs397508079 |
| PheGenI | rs397508079 |
| Biobank | rs397508079 |
| 1000 genomes | rs397508079 |
| hgdp | rs397508079 |
| ensembl | rs397508079 |
| geneview | rs397508079 |
| scholar | rs397508079 |
| rs397508079 | |
| pharmgkb | rs397508079 |
| gwascentral | rs397508079 |
| openSNP | rs397508079 |
| 23andMe | rs397508079 |
| SNPshot | rs397508079 |
| SNPdbe | rs397508079 |
| MSV3d | rs397508079 |
| GWAS Ctlg | rs397508079 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397508079(T;T) |
| Alt | rs397508079(T;T) |
| Reference | Rs397508079(-;-) |
| Significance | Untested |
| Disease | Jervell and Lange-Nielsen syndrome 1 |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Jervell and Lange-Nielsen syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2608820dupT |
| CLNSRC | ClinVar |
| CLNACC | RCV000045969.2, |
