rs886043243
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Chromosome | 1 |
| Position | 7745021 |
| Gene | CAMTA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886043243 |
| dbSNP (classic) | rs886043243 |
| ClinGen | rs886043243 |
| ebi | rs886043243 |
| HLI | rs886043243 |
| Exac | rs886043243 |
| Gnomad | rs886043243 |
| Varsome | rs886043243 |
| LitVar | rs886043243 |
| Map | rs886043243 |
| PheGenI | rs886043243 |
| Biobank | rs886043243 |
| 1000 genomes | rs886043243 |
| hgdp | rs886043243 |
| ensembl | rs886043243 |
| geneview | rs886043243 |
| scholar | rs886043243 |
| rs886043243 | |
| pharmgkb | rs886043243 |
| gwascentral | rs886043243 |
| openSNP | rs886043243 |
| 23andMe | rs886043243 |
| SNPshot | rs886043243 |
| SNPdbe | rs886043243 |
| MSV3d | rs886043243 |
| GWAS Ctlg | rs886043243 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886043243(T;T) |
| Alt | rs886043243(T;T) |
| Reference | Rs886043243(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Cerebellar ataxia |
| Variation | info |
| Gene | CAMTA1 |
| CLNDBN | Cerebellar ataxia, nonprogressive, with mental retardation |
| Reversed | 0 |
| HGVS | NC_000001.10:g.7805081C>T |
| CLNSRC | |
| CLNACC | RCV000311706.1, |
