rs540839115
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | Carrier of a mutation for spinocerebellar ataxia-24 |
| (T;T) | 6.9 | Spinocerebellar ataxia-24 |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 3 |
| Position | 132672101 |
| Gene | NPHP3-ACAD11, UBA5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs540839115 |
| dbSNP (classic) | rs540839115 |
| ClinGen | rs540839115 |
| ebi | rs540839115 |
| HLI | rs540839115 |
| Exac | rs540839115 |
| Gnomad | rs540839115 |
| Varsome | rs540839115 |
| LitVar | rs540839115 |
| Map | rs540839115 |
| PheGenI | rs540839115 |
| Biobank | rs540839115 |
| 1000 genomes | rs540839115 |
| hgdp | rs540839115 |
| ensembl | rs540839115 |
| geneview | rs540839115 |
| scholar | rs540839115 |
| rs540839115 | |
| pharmgkb | rs540839115 |
| gwascentral | rs540839115 |
| openSNP | rs540839115 |
| 23andMe | rs540839115 |
| SNPshot | rs540839115 |
| SNPdbe | rs540839115 |
| MSV3d | rs540839115 |
| GWAS Ctlg | rs540839115 |
| Max Magnitude | 6.9 |
UBA5 gene, c.736C>T (p.Arg246Ter)
The minor allele is reported in ClinVar as being pathogenic for autosomal recessive spinocerebellar ataxia-24.
| ClinVar | |
|---|---|
| Risk | rs540839115(A;A) Rs540839115(T;T) |
| Alt | rs540839115(A;A) Rs540839115(T;T) |
| Reference | Rs540839115(C;C) |
| Significance | Pathogenic |
| Disease | Spinocerebellar ataxia |
| Variation | info |
| Gene | UBA5 NPHP3-ACAD11 |
| CLNDBN | Spinocerebellar ataxia, autosomal recessive 24 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.132390945C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000255643.3, |
