rs34424986
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an early-onset Parkinson's mutation |
| (T;T) | 9 | Early-onset (juvenile) Parkinson's disease likely |
| Reference | GRCh38 38.1/142 |
| Chromosome | 6 |
| Position | 161785820 |
| Gene | PARK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34424986 |
| dbSNP (classic) | rs34424986 |
| ClinGen | rs34424986 |
| ebi | rs34424986 |
| HLI | rs34424986 |
| Exac | rs34424986 |
| Gnomad | rs34424986 |
| Varsome | rs34424986 |
| LitVar | rs34424986 |
| Map | rs34424986 |
| PheGenI | rs34424986 |
| Biobank | rs34424986 |
| 1000 genomes | rs34424986 |
| hgdp | rs34424986 |
| ensembl | rs34424986 |
| geneview | rs34424986 |
| scholar | rs34424986 |
| rs34424986 | |
| pharmgkb | rs34424986 |
| gwascentral | rs34424986 |
| openSNP | rs34424986 |
| 23andMe | rs34424986 |
| SNPshot | rs34424986 |
| SNPdbe | rs34424986 |
| MSV3d | rs34424986 |
| GWAS Ctlg | rs34424986 |
| GMAF | 0.0004591 |
| Max Magnitude | 9 |
c.823C>T (p.Arg275Trp)
| ClinVar | |
|---|---|
| Risk | rs34424986(A;A) Rs34424986(T;T) |
| Alt | rs34424986(A;A) Rs34424986(T;T) |
| Reference | Rs34424986(C;C) |
| Significance | Other |
| Disease | Parkinson disease 2 Parkinson Disease |
| Variation | info |
| Gene | PARK2 |
| CLNDBN | Parkinson disease 2 Parkinson Disease, Juvenile |
| Reversed | 1 |
| HGVS | NC_000006.11:g.162206852G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007466.3, RCV000272835.1, |
