Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750231
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 29 1995 2018
dbSNP: rs63750231
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 6 1995 2017
dbSNP: rs63750231
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 6 1995 2017
dbSNP: rs63750231
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.700 1.000 6 1995 2017
dbSNP: rs63750231
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C4015780
Disease: ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES 		0.700 0