rs775111365
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs775111365(-;AC) |
| Make rs775111365(AC;AC) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 34257759 |
| Gene | SLC12A6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs775111365 |
| dbSNP (classic) | rs775111365 |
| ClinGen | rs775111365 |
| ebi | rs775111365 |
| HLI | rs775111365 |
| Exac | rs775111365 |
| Gnomad | rs775111365 |
| Varsome | rs775111365 |
| LitVar | rs775111365 |
| Map | rs775111365 |
| PheGenI | rs775111365 |
| Biobank | rs775111365 |
| 1000 genomes | rs775111365 |
| hgdp | rs775111365 |
| ensembl | rs775111365 |
| geneview | rs775111365 |
| scholar | rs775111365 |
| rs775111365 | |
| pharmgkb | rs775111365 |
| gwascentral | rs775111365 |
| openSNP | rs775111365 |
| 23andMe | rs775111365 |
| SNPshot | rs775111365 |
| SNPdbe | rs775111365 |
| MSV3d | rs775111365 |
| GWAS Ctlg | rs775111365 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs775111365(AC;AC) |
| Alt | rs775111365(AC;AC) |
| Reference | Rs775111365(-;-) |
| Significance | Probable-Pathogenic |
| Disease | Andermann syndrome |
| Variation | info |
| Gene | SLC12A6 |
| CLNDBN | Andermann syndrome |
| Reversed | 0 |
| HGVS | NC_000015.9:g.34549961_34549962dupAC |
| CLNSRC | |
| CLNACC | RCV000169349.1, |
