rs112176450
From SNPedia
| Parkinson's disease |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | Late-onset Parkinson's disease |
| (A;G) | 8 | Late-onset Parkinson's disease |
| (G;G) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 184327401 |
| Gene | EIF4G1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs112176450 |
| dbSNP (classic) | rs112176450 |
| ClinGen | rs112176450 |
| ebi | rs112176450 |
| HLI | rs112176450 |
| Exac | rs112176450 |
| Gnomad | rs112176450 |
| Varsome | rs112176450 |
| LitVar | rs112176450 |
| Map | rs112176450 |
| PheGenI | rs112176450 |
| Biobank | rs112176450 |
| 1000 genomes | rs112176450 |
| hgdp | rs112176450 |
| ensembl | rs112176450 |
| geneview | rs112176450 |
| scholar | rs112176450 |
| rs112176450 | |
| pharmgkb | rs112176450 |
| gwascentral | rs112176450 |
| openSNP | rs112176450 |
| 23andMe | rs112176450 |
| SNPshot | rs112176450 |
| SNPdbe | rs112176450 |
| MSV3d | rs112176450 |
| GWAS Ctlg | rs112176450 |
| GMAF | 0.0004591 |
| Max Magnitude | 8 |
rs112176450, also known as c.3614G>A, Arg1205His or R1205H, 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 rs112176450(A), a very rare allele, is 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 | Rs112176450(A;A) |
| Alt | Rs112176450(A;A) |
| Reference | Rs112176450(G;G) |
| Significance | Other |
| Disease | Parkinson disease 18 |
| Variation | info |
| Gene | EIF4G1 |
| CLNDBN | Parkinson disease 18 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.184045189G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022975.5, |
