rs758361736
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs758361736(G;G) |
| Make rs758361736(G;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 89649836 |
| Gene | KIF7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs758361736 |
| dbSNP (classic) | rs758361736 |
| ClinGen | rs758361736 |
| ebi | rs758361736 |
| HLI | rs758361736 |
| Exac | rs758361736 |
| Gnomad | rs758361736 |
| Varsome | rs758361736 |
| LitVar | rs758361736 |
| Map | rs758361736 |
| PheGenI | rs758361736 |
| Biobank | rs758361736 |
| 1000 genomes | rs758361736 |
| hgdp | rs758361736 |
| ensembl | rs758361736 |
| geneview | rs758361736 |
| scholar | rs758361736 |
| rs758361736 | |
| pharmgkb | rs758361736 |
| gwascentral | rs758361736 |
| openSNP | rs758361736 |
| 23andMe | rs758361736 |
| SNPshot | rs758361736 |
| SNPdbe | rs758361736 |
| MSV3d | rs758361736 |
| GWAS Ctlg | rs758361736 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs758361736(G;G) |
| Alt | rs758361736(G;G) |
| Reference | Rs758361736(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Ataxia Nystagmus Postaxial foot polydactyly Postaxial hand polydactyly Spasticity Strabismus Ventriculomegaly |
| Variation | info |
| Gene | KIF7 |
| CLNDBN | Ataxia Nystagmus Postaxial foot polydactyly Postaxial hand polydactyly Spasticity Strabismus Ventriculomegaly |
| Reversed | 0 |
| HGVS | NC_000015.9:g.90193067T>G |
| CLNSRC | |
| CLNACC | RCV000415003.1, |
