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PSEN1

From SNPedia

is agene
is mentioned by
Full namepresenilin 1
EntrezGene5663
PheGenI5663
VariationViewer5663
ClinVarPSEN1
GeneCardsPSEN1
dbSNP5663
SADR5663
HugeNav5663
wikipediaPSEN1
googlePSEN1
gopubmedPSEN1
EVSPSEN1
HEFalMpPSEN1
MyGene2PSEN1
23andMePSEN1
UniProtP49768
EnsemblENSG00000080815
OMIM104311
# SNPs45
 Max MagnitudeChromosome positionSummary
i300272173,685,900
i5047571
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
rs63749824773,170,945
rs63749885973,186,859
rs63749891973,198,094
rs63750082073,192,712
rs63750083073,219,177
rs63750218873,217,171
rs63750231873,198,100
rs63750265073,186,869
rs63750306073,173,663
rs63750391073,173,665
rs6375048773,192,771
rs63750526873,192,832
rs63750577973,186,881
rs63750590873,186,860
rs63750599973,170,963
rs63750687073,217,137
rs63750815973,170,974
rs63750886973,198,072
rs63750900973,198,067
rs63751037973,173,642
rs63751068973,186,920
rs63751141973,170,984
rs63751144973,186,892
rs63751163973,192,844
rs63751223973,219,161
rs63751229973,198,060
rs63751235973,198,117
rs63751272073,173,587
rs63751287073,192,792
rs63751320973,192,862
rs63751399073,171,047
rs661973,217,225

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