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PSEN1

From SNPedia

is agene
is mentioned by
Full namepresenilin 1
EntrezGene5663
PheGenI5663
VariationViewer5663
ClinVarPSEN1
GeneCardsPSEN1
dbSNP5663
DiseasesPSEN1
SADR5663
HugeNav5663
wikipediaPSEN1
googlePSEN1
gopubmedPSEN1
EVSPSEN1
HEFalMpPSEN1
MyGene2PSEN1
23andMePSEN1
UniProtP49768
EnsemblENSG00000080815
OMIM104311
# SNPs76
 Max MagnitudeChromosome positionSummary
i300272173,685,900
i5007546
i5007548
i5007549
i5007550
i5047488
i5047502
i5047522
i5047529
i5047544
i5047571
i5047575
i5047580
rs105751891973,171,023
rs1219178078.873,198,057
rs121917808873,219,192
rs121917809673,211,811
rs17125721073,206,470
rs17741573,211,255
rs1800844073,136,992
rs2676069838.873,192,744
rs2818753578.873,219,185
rs28930977073,219,192
rs30257861.673,198,010
rs36234473,223,011
rs53348773873,136,373
rs63749805773,173,577
rs63749824773,170,945
rs63749885973,186,859
rs63749891973,198,094
rs63749911773,186,901
rs63749962773,173,570
rs63749967773,170,953
rs63750004773,173,655
rs637500828.873,192,712
rs63750083873,219,177
rs63750218873,217,171
rs637502278.873,217,221
rs63750231873,198,100
rs637502658.873,186,869
rs63750299773,186,890
rs637503018.873,198,052
rs63750306773,173,663
rs63750325773,171,022
rs63750391773,173,665
rs637504188.873,186,877
rs63750450773,173,571
rs6375048773,192,771
rs63750526873,192,832
rs63750550773,173,576
... further results

PSEN1 encodes Presenilin-1 (PS-1), a component of the Presenilin family, part of gamma secretase, which affects amyloid precursor protein. Certain variants cause early-onset Alzheimer's Disease.