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PSEN2

From SNPedia

is agene
is mentioned by
Full namepresenilin 2
EntrezGene5664
PheGenI5664
VariationViewer5664
ClinVarPSEN2
GeneCardsPSEN2
dbSNP5664
DiseasesPSEN2
SADR5664
HugeNav5664
wikipediaPSEN2
googlePSEN2
gopubmedPSEN2
EVSPSEN2
HEFalMpPSEN2
MyGene2PSEN2
23andMePSEN2
UniProtP49810
EnsemblENSG00000143801
OMIM600759
# SNPs28
 Max MagnitudeChromosome positionSummary
i5007545
i5047676
rs114050226,881,976
rs12956450226,871,336
rs1378527030226,885,546
rs1504003875226,883,747
rs18006800226,888,283
rs2006701350226,888,972
rs2007547137226,888,954
rs2073489226,875,970
rs289363799226,888,977
rs289363809226,885,546
rs3678551277226,888,974
rs5741258907226,888,902
rs617577811.5226,888,112Mutation in the PSEN2 Gene
rs617612088226,885,602
rs637498519226,885,545
rs637498848226,888,979
rs637500489226,883,817
rs637501104226,895,548
rs637501976.6226,885,570
rs637502159226,885,603
rs637506668226,895,521
rs637508125226,885,623
rs67590226,882,036
rs7551013547226,885,663
rs7751454867226,888,116
rs83830226,895,849

PSEN2 encodes Presenilin-2, a component of gamma-secretase which cleaves amyloid precursor protein. Variants are associated with early-onset familial Alzheimer disease and idiopathic dilated cardiomyopathy.