rs148934699
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs148934699(C;T) |
| Make rs148934699(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 5022180 |
| Gene | KIF1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148934699 |
| dbSNP (classic) | rs148934699 |
| ClinGen | rs148934699 |
| ebi | rs148934699 |
| HLI | rs148934699 |
| Exac | rs148934699 |
| Gnomad | rs148934699 |
| Varsome | rs148934699 |
| LitVar | rs148934699 |
| Map | rs148934699 |
| PheGenI | rs148934699 |
| Biobank | rs148934699 |
| 1000 genomes | rs148934699 |
| hgdp | rs148934699 |
| ensembl | rs148934699 |
| geneview | rs148934699 |
| scholar | rs148934699 |
| rs148934699 | |
| pharmgkb | rs148934699 |
| gwascentral | rs148934699 |
| openSNP | rs148934699 |
| 23andMe | rs148934699 |
| SNPshot | rs148934699 |
| SNPdbe | rs148934699 |
| MSV3d | rs148934699 |
| GWAS Ctlg | rs148934699 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148934699(T;T) |
| Alt | rs148934699(T;T) |
| Reference | Rs148934699(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Ataxia not provided not specified |
| Variation | info |
| Gene | KIF1C |
| CLNDBN | Ataxia, spastic, 2, autosomal recessive not provided not specified |
| Reversed | 0 |
| HGVS | NC_000017.10:g.4925475C>T |
| CLNSRC | Baylor College of Medicine |
| CLNACC | RCV000191099.1, RCV000415815.1, RCV000494416.1, |
