rs28938172
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 8.7 | Parkinson's disease, type 7, early-onset |
| (C;T) | 3 | Carrier of an early-onset Parkinson's mutation |
| (T;T) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 7984981 |
| Gene | PARK7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28938172 |
| dbSNP (classic) | rs28938172 |
| ClinGen | rs28938172 |
| ebi | rs28938172 |
| HLI | rs28938172 |
| Exac | rs28938172 |
| Gnomad | rs28938172 |
| Varsome | rs28938172 |
| LitVar | rs28938172 |
| Map | rs28938172 |
| PheGenI | rs28938172 |
| Biobank | rs28938172 |
| 1000 genomes | rs28938172 |
| hgdp | rs28938172 |
| ensembl | rs28938172 |
| geneview | rs28938172 |
| scholar | rs28938172 |
| rs28938172 | |
| pharmgkb | rs28938172 |
| gwascentral | rs28938172 |
| openSNP | rs28938172 |
| 23andMe | rs28938172 |
| SNPshot | rs28938172 |
| SNPdbe | rs28938172 |
| MSV3d | rs28938172 |
| GWAS Ctlg | rs28938172 |
| Max Magnitude | 8.7 |
c.497T>C (p.Leu166Pro or L166P)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 7)
See also OMIM 602533.0002
23andMe calls this i5047042
| ClinVar | |
|---|---|
| Risk | Rs28938172(C;C) |
| Alt | Rs28938172(C;C) |
| Reference | Rs28938172(T;T) |
| Significance | Pathogenic |
| Disease | Parkinson disease 7 |
| Variation | info |
| Gene | PARK7 |
| CLNDBN | Parkinson disease 7 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.8045041T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007480.4, |
