rs548204329
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs548204329(A;A) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 2 |
| Position | 240797722 |
| Gene | KIF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs548204329 |
| dbSNP (classic) | rs548204329 |
| ClinGen | rs548204329 |
| ebi | rs548204329 |
| HLI | rs548204329 |
| Exac | rs548204329 |
| Gnomad | rs548204329 |
| Varsome | rs548204329 |
| LitVar | rs548204329 |
| Map | rs548204329 |
| PheGenI | rs548204329 |
| Biobank | rs548204329 |
| 1000 genomes | rs548204329 |
| hgdp | rs548204329 |
| ensembl | rs548204329 |
| geneview | rs548204329 |
| scholar | rs548204329 |
| rs548204329 | |
| pharmgkb | rs548204329 |
| gwascentral | rs548204329 |
| openSNP | rs548204329 |
| 23andMe | rs548204329 |
| SNPshot | rs548204329 |
| SNPdbe | rs548204329 |
| MSV3d | rs548204329 |
| GWAS Ctlg | rs548204329 |
| Max Magnitude | 0 |
aka c.31C>T, p.(Arg11Trp)
[PMID 28832565
] Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegia; implies the minor allele is a dominant mutation.
