rs74315351
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8.7 | Parkinson's disease, type 7, early-onset |
| (A;G) | 3 | Carrier of an early-onset Parkinson's mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 7962863 |
| Gene | PARK7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315351 |
| dbSNP (classic) | rs74315351 |
| ClinGen | rs74315351 |
| ebi | rs74315351 |
| HLI | rs74315351 |
| Exac | rs74315351 |
| Gnomad | rs74315351 |
| Varsome | rs74315351 |
| LitVar | rs74315351 |
| Map | rs74315351 |
| PheGenI | rs74315351 |
| Biobank | rs74315351 |
| 1000 genomes | rs74315351 |
| hgdp | rs74315351 |
| ensembl | rs74315351 |
| geneview | rs74315351 |
| scholar | rs74315351 |
| rs74315351 | |
| pharmgkb | rs74315351 |
| gwascentral | rs74315351 |
| openSNP | rs74315351 |
| 23andMe | rs74315351 |
| SNPshot | rs74315351 |
| SNPdbe | rs74315351 |
| MSV3d | rs74315351 |
| GWAS Ctlg | rs74315351 |
| Max Magnitude | 8.7 |
c.78G>A (p.Met26Ile or M26I)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease.
See also OMIM 602533.0003
23andMe names this i5047037
| ClinVar | |
|---|---|
| Risk | Rs74315351(A;A) |
| Alt | Rs74315351(A;A) |
| Reference | Rs74315351(G;G) |
| Significance | Pathogenic |
| Disease | Parkinson disease 7 |
| Variation | info |
| Gene | PARK7 |
| CLNDBN | Parkinson disease 7 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.8022923G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007481.4, |
