rs886039762
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs886039762(A;G) |
| Make rs886039762(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 3 |
| Position | 132675363 |
| Gene | NPHP3-ACAD11, UBA5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886039762 |
| dbSNP (classic) | rs886039762 |
| ClinGen | rs886039762 |
| ebi | rs886039762 |
| HLI | rs886039762 |
| Exac | rs886039762 |
| Gnomad | rs886039762 |
| Varsome | rs886039762 |
| LitVar | rs886039762 |
| Map | rs886039762 |
| PheGenI | rs886039762 |
| Biobank | rs886039762 |
| 1000 genomes | rs886039762 |
| hgdp | rs886039762 |
| ensembl | rs886039762 |
| geneview | rs886039762 |
| scholar | rs886039762 |
| rs886039762 | |
| pharmgkb | rs886039762 |
| gwascentral | rs886039762 |
| openSNP | rs886039762 |
| 23andMe | rs886039762 |
| SNPshot | rs886039762 |
| SNPdbe | rs886039762 |
| MSV3d | rs886039762 |
| GWAS Ctlg | rs886039762 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886039762(G;G) |
| Alt | rs886039762(G;G) |
| Reference | Rs886039762(A;A) |
| Significance | Pathogenic |
| Disease | Spinocerebellar ataxia |
| Variation | info |
| Gene | UBA5 NPHP3-ACAD11 |
| CLNDBN | Spinocerebellar ataxia, autosomal recessive 24 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.132394207A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000254733.3, |
