rs142053576
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs142053576(A;G) |
| Make rs142053576(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 32144945 |
| Gene | SPAST |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142053576 |
| dbSNP (classic) | rs142053576 |
| ClinGen | rs142053576 |
| ebi | rs142053576 |
| HLI | rs142053576 |
| Exac | rs142053576 |
| Gnomad | rs142053576 |
| Varsome | rs142053576 |
| LitVar | rs142053576 |
| Map | rs142053576 |
| PheGenI | rs142053576 |
| Biobank | rs142053576 |
| 1000 genomes | rs142053576 |
| hgdp | rs142053576 |
| ensembl | rs142053576 |
| geneview | rs142053576 |
| scholar | rs142053576 |
| rs142053576 | |
| pharmgkb | rs142053576 |
| gwascentral | rs142053576 |
| openSNP | rs142053576 |
| 23andMe | rs142053576 |
| SNPshot | rs142053576 |
| SNPdbe | rs142053576 |
| MSV3d | rs142053576 |
| GWAS Ctlg | rs142053576 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142053576(G;G) |
| Alt | rs142053576(G;G) |
| Reference | Rs142053576(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Spastic paraplegia 4 not provided |
| Variation | info |
| Gene | SPAST |
| CLNDBN | Spastic paraplegia 4, autosomal dominant not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.32370014A>G |
| CLNSRC | |
| CLNACC | RCV000199081.1, RCV000486146.1, |
