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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
# SNPs66
 Max MagnitudeChromosome positionSummary
i300272173,685,900
i5007546
i5047522
i5047544
i5047571
i5047575
i5047580
rs121917807073,198,057
rs121917808073,219,192
rs121917809073,211,811
rs17125721073,206,470
rs17741573,211,255
rs1800844073,136,992
rs267606983073,192,744
rs281875357073,219,185
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
rs63750082073,192,712
rs63750083873,219,177
rs63750218873,217,171
rs63750231873,198,100
rs63750265073,186,869
rs63750299773,186,890
rs63750306073,173,663
rs63750325773,171,022
rs63750391073,173,665
rs63750450773,173,571
rs6375048773,192,771
rs63750526873,192,832
rs63750550773,173,576
rs63750577973,186,881
rs63750590873,186,860
rs63750599973,170,963
rs63750687073,217,137
rs63750730773,173,574
rs63750815973,170,974
rs63750886973,198,072
rs63750900973,198,067
rs63750907773,173,667
rs63751037973,173,642
... 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.