rs63751278, PSEN1

N. diseases: 6
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.
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
15 0.827 0.120 14 73173631 missense variant A/G snv 0.700 1.000 4 1997 2017
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
124 0.827 0.120 14 73173631 missense variant A/G snv 0.700 1.000 4 1997 2017
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.827 0.120 14 73173631 missense variant A/G snv 0.700 1.000 4 1997 2017
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.827 0.120 14 73173631 missense variant A/G snv 0.700 1.000 4 1997 2017
Familial Alzheimer's disease of early onset
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
33 0.827 0.120 14 73173631 missense variant A/G snv 0.010 1.000 1 2008 2008
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.120 14 73173631 missense variant A/G snv 0.010 1.000 1 2008 2008