PARK2
From SNPedia
| is a | gene |
| is | mentioned by |
| EntrezGene | 5071 |
| PheGenI | 5071 |
| VariationViewer | 5071 |
| ClinVar | PARK2 |
| GeneCards | PARK2 |
| dbSNP | 5071 |
| Diseases | PARK2 |
| SADR | 5071 |
| HugeNav | 5071 |
| wikipedia | PARK2 |
| PARK2 | |
| gopubmed | PARK2 |
| EVS | PARK2 |
| HEFalMp | PARK2 |
| MyGene2 | PARK2 |
| 23andMe | PARK2 |
| # SNPs | 39 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5007828 | |||
| i5007832 | |||
| i5007833 | |||
| i5046960 | |||
| i5047025 | |||
| i5047028 | |||
| i5047029 | |||
| rs10945859 | 0 | 162,721,570 | |
| rs12190800 | 0 | 161,507,492 | |
| rs12207186 | 0 | 161,893,889 | |
| rs137853054 | 9 | 161,973,317 | |
| rs137853055 | 9 | 161,569,357 | |
| rs137853056 | 9 | 161,350,139 | |
| rs137853057 | 9 | 162,201,182 | |
| rs137853058 | 9 | 161,973,401 | |
| rs137853059 | 9 | 162,443,314 | |
| rs137853060 | 9 | 161,973,403 | |
| rs16892673 | 0 | 161,512,903 | |
| rs1801334 | 0 | 161,360,193 | |
| rs191486604 | 0 | 161,350,208 | |
| rs2023004 | 0 | 162,495,517 | |
| rs2276201 | 0 | 162,728,465 | |
| rs2803085 | 0 | 162,721,586 | |
| rs3016539 | 0 | 161,815,043 | |
| rs34424986 | 9 | 161,785,820 | |
| rs397514694 | 9 | 161,350,205 | |
| rs397518439 | 9 | 162,727,661 | |
| rs4709583 | 0 | 162,201,272 | |
| rs55774500 | 0 | 162,262,692 | |
| rs55777503 | 0 | 162,443,379 | |
| rs55830907 | 0 | 161,360,169 | |
| rs6902041 | 0 | 162,427,897 | |
| rs6936895 | 0 | 162,526,778 | |
| rs751037529 | 9 | 161,785,793 | |
| rs7755681 | 0 | 161,575,338 | |
| rs926849 | 0 | 161,740,587 | |
| rs9347683 | 0 | 162,728,023 | |
| rs9456721 | 0 | 161,879,876 | |
| rs992037 | 0 | 161,580,404 |
Mutations in the PARK2 gene have been linked to rare, inherited forms of Parkinson's disease.
A deletion detected through CNV, or copy number variation techniques, has also implicated a region of the PARK2 gene. Specifically, a homozygous deletion spanning from rs1790024 to rs10945791 is reported to be associated with early-onset Parkinson's disease. [PMID 17994548]
