rs757130394
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs757130394(A;A) |
| Make rs757130394(A;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 32137112 |
| Gene | SPAST |
| is a | snp |
| is | mentioned by |
| dbSNP | rs757130394 |
| dbSNP (classic) | rs757130394 |
| ClinGen | rs757130394 |
| ebi | rs757130394 |
| HLI | rs757130394 |
| Exac | rs757130394 |
| Gnomad | rs757130394 |
| Varsome | rs757130394 |
| LitVar | rs757130394 |
| Map | rs757130394 |
| PheGenI | rs757130394 |
| Biobank | rs757130394 |
| 1000 genomes | rs757130394 |
| hgdp | rs757130394 |
| ensembl | rs757130394 |
| geneview | rs757130394 |
| scholar | rs757130394 |
| rs757130394 | |
| pharmgkb | rs757130394 |
| gwascentral | rs757130394 |
| openSNP | rs757130394 |
| 23andMe | rs757130394 |
| SNPshot | rs757130394 |
| SNPdbe | rs757130394 |
| MSV3d | rs757130394 |
| GWAS Ctlg | rs757130394 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs757130394(A;A) rs757130394(T;T) |
| Alt | rs757130394(A;A) rs757130394(T;T) |
| Reference | Rs757130394(C;C) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 4 |
| Variation | info |
| Gene | SPAST |
| CLNDBN | Spastic paraplegia 4, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000002.11:g.32362181C>T |
| CLNSRC | |
| CLNACC | RCV000197545.1, |
