rs587778791
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs587778791(-;-) |
| Make rs587778791(-;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 240757337 |
| Gene | KIF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587778791 |
| dbSNP (classic) | rs587778791 |
| ClinGen | rs587778791 |
| ebi | rs587778791 |
| HLI | rs587778791 |
| Exac | rs587778791 |
| Gnomad | rs587778791 |
| Varsome | rs587778791 |
| LitVar | rs587778791 |
| Map | rs587778791 |
| PheGenI | rs587778791 |
| Biobank | rs587778791 |
| 1000 genomes | rs587778791 |
| hgdp | rs587778791 |
| ensembl | rs587778791 |
| geneview | rs587778791 |
| scholar | rs587778791 |
| rs587778791 | |
| pharmgkb | rs587778791 |
| gwascentral | rs587778791 |
| openSNP | rs587778791 |
| 23andMe | rs587778791 |
| SNPshot | rs587778791 |
| SNPdbe | rs587778791 |
| MSV3d | rs587778791 |
| GWAS Ctlg | rs587778791 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587778791(-;-) |
| Alt | rs587778791(-;-) |
| Reference | Rs587778791(T;T) |
| Significance | Pathogenic |
| Disease | Hereditary sensory and autonomic neuropathy type IIA |
| Variation | info |
| Gene | KIF1A |
| CLNDBN | Hereditary sensory and autonomic neuropathy type IIA |
| Reversed | 1 |
| HGVS | NC_000002.11:g.241696754delA |
| CLNSRC | |
| CLNACC | RCV000056104.1, |
