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PARK2

From SNPedia
is agene
is mentioned by
EntrezGene5071
PheGenI5071
VariationViewer5071
ClinVarPARK2
GeneCardsPARK2
dbSNP5071
DiseasesPARK2
SADR5071
HugeNav5071
wikipediaPARK2
googlePARK2
gopubmedPARK2
EVSPARK2
HEFalMpPARK2
MyGene2PARK2
23andMePARK2
# SNPs39
 Max MagnitudeChromosome positionSummary
i5007828
i5007832
i5007833
i5046960
i5047025
i5047028
i5047029
rs10945859162,721,570
rs12190800161,507,492
rs12207186161,893,889
rs1378530549161,973,317
rs1378530559161,569,357
rs1378530569161,350,139
rs1378530579162,201,182
rs1378530589161,973,401
rs1378530599162,443,314
rs1378530609161,973,403
rs16892673161,512,903
rs18013340161,360,193
rs1914866040161,350,208
rs2023004162,495,517
rs2276201162,728,465
rs2803085162,721,586
rs30165390161,815,043
rs344249869161,785,820
rs3975146949161,350,205
rs3975184399162,727,661
rs47095830162,201,272
rs557745000162,262,692
rs557775030162,443,379
rs558309070161,360,169
rs6902041162,427,897
rs6936895162,526,778
rs7510375299161,785,793
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]