rs116297894
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Significance uncertain; *possible* association with spastic paraplegia |
| (A;G) | 3 | Carrier of a *possible* spastic paraplegia mutation, but significance is uncertain |
| (G;G) | 0 | common/normal |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 240747320 |
| Gene | KIF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116297894 |
| dbSNP (classic) | rs116297894 |
| ClinGen | rs116297894 |
| ebi | rs116297894 |
| HLI | rs116297894 |
| Exac | rs116297894 |
| Gnomad | rs116297894 |
| Varsome | rs116297894 |
| LitVar | rs116297894 |
| Map | rs116297894 |
| PheGenI | rs116297894 |
| Biobank | rs116297894 |
| 1000 genomes | rs116297894 |
| hgdp | rs116297894 |
| ensembl | rs116297894 |
| geneview | rs116297894 |
| scholar | rs116297894 |
| rs116297894 | |
| pharmgkb | rs116297894 |
| gwascentral | rs116297894 |
| openSNP | rs116297894 |
| 23andMe | rs116297894 |
| SNPshot | rs116297894 |
| SNPdbe | rs116297894 |
| MSV3d | rs116297894 |
| GWAS Ctlg | rs116297894 |
| Max Magnitude | 3 |
aka c.2676C>T, p.Ala892=, A993A
ClinVar indicated "likely benign" for a form of spastic paraplegia (type 30), listed in OMIM as a recessively inherited condition; in 10.1126/science.aal4043, this variant appears to have some effect even if inherited in only one copy (see paper for discussion) and so rather than benign, it is tagged as of "uncertain significance".
