rs119476050
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs119476050(C;T) |
| Make rs119476050(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 50628154 |
| Gene | ATL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119476050 |
| dbSNP (classic) | rs119476050 |
| ClinGen | rs119476050 |
| ebi | rs119476050 |
| HLI | rs119476050 |
| Exac | rs119476050 |
| Gnomad | rs119476050 |
| Varsome | rs119476050 |
| LitVar | rs119476050 |
| Map | rs119476050 |
| PheGenI | rs119476050 |
| Biobank | rs119476050 |
| 1000 genomes | rs119476050 |
| hgdp | rs119476050 |
| ensembl | rs119476050 |
| geneview | rs119476050 |
| scholar | rs119476050 |
| rs119476050 | |
| pharmgkb | rs119476050 |
| gwascentral | rs119476050 |
| openSNP | rs119476050 |
| 23andMe | rs119476050 |
| SNPshot | rs119476050 |
| SNPdbe | rs119476050 |
| MSV3d | rs119476050 |
| GWAS Ctlg | rs119476050 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119476050(T;T) |
| Alt | rs119476050(T;T) |
| Reference | Rs119476050(C;C) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 3 Inborn genetic diseases |
| Variation | info |
| Gene | ATL1 |
| CLNDBN | Spastic paraplegia 3 Inborn genetic diseases |
| Reversed | 0 |
| HGVS | NC_000014.8:g.51094872C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004600.5, RCV000190652.1, |
