rs199588440
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199588440(A;A) |
| Make rs199588440(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 44628785 |
| Gene | SPG11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199588440 |
| dbSNP (classic) | rs199588440 |
| ClinGen | rs199588440 |
| ebi | rs199588440 |
| HLI | rs199588440 |
| Exac | rs199588440 |
| Gnomad | rs199588440 |
| Varsome | rs199588440 |
| LitVar | rs199588440 |
| Map | rs199588440 |
| PheGenI | rs199588440 |
| Biobank | rs199588440 |
| 1000 genomes | rs199588440 |
| hgdp | rs199588440 |
| ensembl | rs199588440 |
| geneview | rs199588440 |
| scholar | rs199588440 |
| rs199588440 | |
| pharmgkb | rs199588440 |
| gwascentral | rs199588440 |
| openSNP | rs199588440 |
| 23andMe | rs199588440 |
| SNPshot | rs199588440 |
| SNPdbe | rs199588440 |
| MSV3d | rs199588440 |
| GWAS Ctlg | rs199588440 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199588440(A;A) |
| Alt | rs199588440(A;A) |
| Reference | Rs199588440(G;G) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 11 |
| Variation | info |
| Gene | SPG11 |
| CLNDBN | Spastic paraplegia 11, autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000015.9:g.44920983G>A |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000034185.2, |
[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
[PMID 18079167] Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
