rs202232792
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs202232792(C;T) |
| Make rs202232792(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 5023573 |
| Gene | KIF1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202232792 |
| dbSNP (classic) | rs202232792 |
| ClinGen | rs202232792 |
| ebi | rs202232792 |
| HLI | rs202232792 |
| Exac | rs202232792 |
| Gnomad | rs202232792 |
| Varsome | rs202232792 |
| LitVar | rs202232792 |
| Map | rs202232792 |
| PheGenI | rs202232792 |
| Biobank | rs202232792 |
| 1000 genomes | rs202232792 |
| hgdp | rs202232792 |
| ensembl | rs202232792 |
| geneview | rs202232792 |
| scholar | rs202232792 |
| rs202232792 | |
| pharmgkb | rs202232792 |
| gwascentral | rs202232792 |
| openSNP | rs202232792 |
| 23andMe | rs202232792 |
| SNPshot | rs202232792 |
| SNPdbe | rs202232792 |
| MSV3d | rs202232792 |
| GWAS Ctlg | rs202232792 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs202232792(T;T) |
| Alt | rs202232792(T;T) |
| Reference | Rs202232792(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Ataxia not specified |
| Variation | info |
| Gene | KIF1C |
| CLNDBN | Ataxia, spastic, 2, autosomal recessive not specified |
| Reversed | 0 |
| HGVS | NC_000017.10:g.4926868C>T |
| CLNSRC | Baylor College of Medicine |
| CLNACC | RCV000191100.1, RCV000479931.1, |
