rs112019125
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (G;T) | 5 | Possible late-onset Parkinson's disease variant |
| (T;T) | 5 | Possible late-onset Parkinson's disease variant |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 184323209 |
| Gene | EIF4G1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs112019125 |
| dbSNP (classic) | rs112019125 |
| ClinGen | rs112019125 |
| ebi | rs112019125 |
| HLI | rs112019125 |
| Exac | rs112019125 |
| Gnomad | rs112019125 |
| Varsome | rs112019125 |
| LitVar | rs112019125 |
| Map | rs112019125 |
| PheGenI | rs112019125 |
| Biobank | rs112019125 |
| 1000 genomes | rs112019125 |
| hgdp | rs112019125 |
| ensembl | rs112019125 |
| geneview | rs112019125 |
| scholar | rs112019125 |
| rs112019125 | |
| pharmgkb | rs112019125 |
| gwascentral | rs112019125 |
| openSNP | rs112019125 |
| 23andMe | rs112019125 |
| SNPshot | rs112019125 |
| SNPdbe | rs112019125 |
| MSV3d | rs112019125 |
| GWAS Ctlg | rs112019125 |
| Max Magnitude | 5 |
rs112019125, also known as Gly686Cys or G686C, is a SNP in the eukaryotic translation initiation factor 4 gamma, 1 EIF4G1 gene on chromosome 3.
A study of several cases of familial Parkinson's disease concluded that rs112019125(T), a very rare allele, may be a dominant mutation leading to late-onset disease. Other mutations in the EIF4G1 gene were also found, with varying degrees of certainty regarding their pathogenicity.10.1016/j.ajhg.2011.08.009
