rs113388242
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;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 | 184327376 |
| Gene | EIF4G1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113388242 |
| dbSNP (classic) | rs113388242 |
| ClinGen | rs113388242 |
| ebi | rs113388242 |
| HLI | rs113388242 |
| Exac | rs113388242 |
| Gnomad | rs113388242 |
| Varsome | rs113388242 |
| LitVar | rs113388242 |
| Map | rs113388242 |
| PheGenI | rs113388242 |
| Biobank | rs113388242 |
| 1000 genomes | rs113388242 |
| hgdp | rs113388242 |
| ensembl | rs113388242 |
| geneview | rs113388242 |
| scholar | rs113388242 |
| rs113388242 | |
| pharmgkb | rs113388242 |
| gwascentral | rs113388242 |
| openSNP | rs113388242 |
| 23andMe | rs113388242 |
| SNPshot | rs113388242 |
| SNPdbe | rs113388242 |
| MSV3d | rs113388242 |
| GWAS Ctlg | rs113388242 |
| Max Magnitude | 5 |
rs113388242, also known as Arg1197Trp or R1197W, 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 rs113388242(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
