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PARK2

From SNPedia

is agene
is mentioned by
EntrezGene5071
PheGenI5071
VariationViewer5071
ClinVarPARK2
GeneCardsPARK2
dbSNP5071
SADR5071
HugeNav5071
wikipediaPARK2
googlePARK2
gopubmedPARK2
EVSPARK2
HEFalMpPARK2
MyGene2PARK2
23andMePARK2
# SNPs25
 Max MagnitudeChromosome positionSummary
rs12190800161,507,492
rs12207186161,893,889
rs1378530540161,973,317
rs1378530550161,569,357
rs1378530560161,350,139
rs1378530570162,201,182
rs1378530580161,973,401
rs1378530590162,443,314
rs1378530600161,973,403
rs16892673161,512,903
rs18013340161,360,193
rs2023004162,495,517
rs30165390161,815,043
rs344249860161,785,820
rs3975146940161,350,205
rs3975184390162,727,661
rs4709583162,201,272
rs557745000162,262,692
rs6902041162,427,897
rs6936895162,526,778
rs7755681161,575,338
rs926849161,740,587
rs9347683162,728,023
rs9456721161,879,876
rs992037161,580,404


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]