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PINK1

From SNPedia

is agene
is mentioned by
EntrezGene65018
PheGenI65018
VariationViewer65018
ClinVarPINK1
GeneCardsPINK1
dbSNP65018
SADR65018
HugeNav65018
wikipediaPINK1
googlePINK1
gopubmedPINK1
EVSPINK1
HEFalMpPINK1
MyGene2PINK1
23andMePINK1
# SNPs17
 Max MagnitudeChromosome positionSummary
rs1043424020,650,507
rs1079965520,630,938
rs119451946020,648,577
rs229829820,637,835
rs28940284020,644,526
rs28940285020,645,640
rs313171320,645,555
rs45539432020,649,109
rs730880302020,650,518
rs74315355020,644,639
rs74315356020,649,054
rs74315357020,639,952
rs74315358020,644,549
rs74315359020,644,651
rs74315360020,638,104
rs74315361020,649,034
rs756677845020,638,074


[PMID 18524835] A rare mutation known as W437X, which places a premature stop codon in the PINK1 protein and when homozygous is associated with severe early onset Parkinson's disease, has also been observed to co-segregate with 2 mitochondrial SNPs.

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