rs267606695
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs267606695(C;C) |
| Make rs267606695(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 60266044 |
| Gene | CA8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267606695 |
| dbSNP (classic) | rs267606695 |
| ClinGen | rs267606695 |
| ebi | rs267606695 |
| HLI | rs267606695 |
| Exac | rs267606695 |
| Gnomad | rs267606695 |
| Varsome | rs267606695 |
| LitVar | rs267606695 |
| Map | rs267606695 |
| PheGenI | rs267606695 |
| Biobank | rs267606695 |
| 1000 genomes | rs267606695 |
| hgdp | rs267606695 |
| ensembl | rs267606695 |
| geneview | rs267606695 |
| scholar | rs267606695 |
| rs267606695 | |
| pharmgkb | rs267606695 |
| gwascentral | rs267606695 |
| openSNP | rs267606695 |
| 23andMe | rs267606695 |
| SNPshot | rs267606695 |
| SNPdbe | rs267606695 |
| MSV3d | rs267606695 |
| GWAS Ctlg | rs267606695 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267606695(C;C) |
| Alt | rs267606695(C;C) |
| Reference | Rs267606695(T;T) |
| Significance | Pathogenic |
| Disease | Cerebellar ataxia |
| Variation | info |
| Gene | CA8 |
| CLNDBN | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 |
| Reversed | 1 |
| HGVS | NC_000008.10:g.61178603A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019170.24, |
