rs63750929, PSEN1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
124 0.882 0.080 14 73217177 missense variant G/T snv 0.700 0
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.882 0.080 14 73217177 missense variant G/T snv 0.030 1.000 3 2008 2020
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.882 0.080 14 73217177 missense variant G/T snv 0.020 0.500 2 2008 2020
Extrapyramidal sign
CUI: C0234133
Disease: Extrapyramidal sign
7 0.882 0.080 14 73217177 missense variant G/T snv 0.010 1.000 1 2017 2017