rs111290936
From SNPedia
| Late-onset Parkinson's disease |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 8 | Late-onset Parkinson's disease (likely) |
| (T;T) | 8 | Late-onset Parkinson's disease (likely) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 184322089 |
| Gene | EIF4G1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111290936 |
| dbSNP (classic) | rs111290936 |
| ClinGen | rs111290936 |
| ebi | rs111290936 |
| HLI | rs111290936 |
| Exac | rs111290936 |
| Gnomad | rs111290936 |
| Varsome | rs111290936 |
| LitVar | rs111290936 |
| Map | rs111290936 |
| PheGenI | rs111290936 |
| Biobank | rs111290936 |
| 1000 genomes | rs111290936 |
| hgdp | rs111290936 |
| ensembl | rs111290936 |
| geneview | rs111290936 |
| scholar | rs111290936 |
| rs111290936 | |
| pharmgkb | rs111290936 |
| gwascentral | rs111290936 |
| openSNP | rs111290936 |
| 23andMe | rs111290936 |
| SNPshot | rs111290936 |
| SNPdbe | rs111290936 |
| MSV3d | rs111290936 |
| GWAS Ctlg | rs111290936 |
| Max Magnitude | 8 |
rs111290936, also known as c.1505C>T, Ala502Val or A502V, 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 rs111290936(T), a very rare allele, is likely to 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
| ClinVar | |
|---|---|
| Risk | Rs111290936(T;T) |
| Alt | Rs111290936(T;T) |
| Reference | Rs111290936(C;C) |
| Significance | Other |
| Disease | Parkinson disease 18 |
| Variation | info |
| Gene | EIF4G1 |
| CLNDBN | Parkinson disease 18 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.184039877C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022976.4, |
