rs113247976
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 1.5 | Slightly increased (~1.4x) ALS risk |
| Make rs113247976(T;T) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 12 |
| Position | 57581917 |
| Gene | KIF5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113247976 |
| dbSNP (classic) | rs113247976 |
| ClinGen | rs113247976 |
| ebi | rs113247976 |
| HLI | rs113247976 |
| Exac | rs113247976 |
| Gnomad | rs113247976 |
| Varsome | rs113247976 |
| LitVar | rs113247976 |
| Map | rs113247976 |
| PheGenI | rs113247976 |
| Biobank | rs113247976 |
| 1000 genomes | rs113247976 |
| hgdp | rs113247976 |
| ensembl | rs113247976 |
| geneview | rs113247976 |
| scholar | rs113247976 |
| rs113247976 | |
| pharmgkb | rs113247976 |
| gwascentral | rs113247976 |
| openSNP | rs113247976 |
| 23andMe | rs113247976 |
| SNPshot | rs113247976 |
| SNPdbe | rs113247976 |
| MSV3d | rs113247976 |
| GWAS Ctlg | rs113247976 |
| Max Magnitude | 1.5 |
aka Pro986Leu
~1.4x increased risk for ALS, also known as Lou Gehrig's disease, is associated with the minor allele of this SNP located in the 3' terminal area of the KIF5A gene.[PMID 29566793
]
