rs573642949
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs573642949(G;T) |
| Make rs573642949(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 32063958 |
| Gene | SPAST |
| is a | snp |
| is | mentioned by |
| dbSNP | rs573642949 |
| dbSNP (classic) | rs573642949 |
| ClinGen | rs573642949 |
| ebi | rs573642949 |
| HLI | rs573642949 |
| Exac | rs573642949 |
| Gnomad | rs573642949 |
| Varsome | rs573642949 |
| LitVar | rs573642949 |
| Map | rs573642949 |
| PheGenI | rs573642949 |
| Biobank | rs573642949 |
| 1000 genomes | rs573642949 |
| hgdp | rs573642949 |
| ensembl | rs573642949 |
| geneview | rs573642949 |
| scholar | rs573642949 |
| rs573642949 | |
| pharmgkb | rs573642949 |
| gwascentral | rs573642949 |
| openSNP | rs573642949 |
| 23andMe | rs573642949 |
| SNPshot | rs573642949 |
| SNPdbe | rs573642949 |
| MSV3d | rs573642949 |
| GWAS Ctlg | rs573642949 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs573642949(C;C) rs573642949(T;T) |
| Alt | rs573642949(C;C) rs573642949(T;T) |
| Reference | Rs573642949(G;G) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 4 |
| Variation | info |
| Gene | SPAST |
| CLNDBN | Spastic paraplegia 4, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000002.11:g.32289027G>T |
| CLNSRC | |
| CLNACC | RCV000461473.1, |
