rs869025281
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs869025281(C;T) |
| Make rs869025281(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 104750442 |
| Gene | HACE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869025281 |
| dbSNP (classic) | rs869025281 |
| ClinGen | rs869025281 |
| ebi | rs869025281 |
| HLI | rs869025281 |
| Exac | rs869025281 |
| Gnomad | rs869025281 |
| Varsome | rs869025281 |
| LitVar | rs869025281 |
| Map | rs869025281 |
| PheGenI | rs869025281 |
| Biobank | rs869025281 |
| 1000 genomes | rs869025281 |
| hgdp | rs869025281 |
| ensembl | rs869025281 |
| geneview | rs869025281 |
| scholar | rs869025281 |
| rs869025281 | |
| pharmgkb | rs869025281 |
| gwascentral | rs869025281 |
| openSNP | rs869025281 |
| 23andMe | rs869025281 |
| SNPshot | rs869025281 |
| SNPdbe | rs869025281 |
| MSV3d | rs869025281 |
| GWAS Ctlg | rs869025281 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs869025281(T;T) |
| Alt | rs869025281(T;T) |
| Reference | Rs869025281(C;C) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia and psychomotor retardation with or without seizures |
| Variation | info |
| Gene | HACE1 |
| CLNDBN | Spastic paraplegia and psychomotor retardation with or without seizures |
| Reversed | 1 |
| HGVS | NC_000006.11:g.105198317G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000207215.1, |
