rs397508134
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CT;CT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| (TC;TC) | 0 | common in clinvar |
| Make rs397508134(-;-) |
| Make rs397508134(-;CT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2583511 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508134 |
| dbSNP (classic) | rs397508134 |
| ClinGen | rs397508134 |
| ebi | rs397508134 |
| HLI | rs397508134 |
| Exac | rs397508134 |
| Gnomad | rs397508134 |
| Varsome | rs397508134 |
| LitVar | rs397508134 |
| Map | rs397508134 |
| PheGenI | rs397508134 |
| Biobank | rs397508134 |
| 1000 genomes | rs397508134 |
| hgdp | rs397508134 |
| ensembl | rs397508134 |
| geneview | rs397508134 |
| scholar | rs397508134 |
| rs397508134 | |
| pharmgkb | rs397508134 |
| gwascentral | rs397508134 |
| openSNP | rs397508134 |
| 23andMe | rs397508134 |
| SNPshot | rs397508134 |
| SNPdbe | rs397508134 |
| MSV3d | rs397508134 |
| GWAS Ctlg | rs397508134 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397508134(-;-) |
| Alt | rs397508134(-;-) |
| Reference | Rs397508134(TC;TC) |
| Significance | Pathogenic |
| Disease | Jervell and Lange-Nielsen syndrome 1 not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Jervell and Lange-Nielsen syndrome 1 not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2604741_2604742delCT |
| CLNSRC | ClinVar |
| CLNACC | RCV000046185.2, RCV000182273.1, |
