Source: UNIPROT

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 24 1995 2018
dbSNP: rs63750248
rs63750248
PSEN1
0.925 0.080 14 73198047 missense variant G/A;C;T snv 4.0E-06; 2.4E-05
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750249
rs63750249
PSEN1
1.000 0.080 14 73219200 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750265
rs63750265
PSEN1
0.882 0.080 14 73186869 missense variant T/A;C;G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 24 1995 2018
dbSNP: rs63750284
rs63750284
PSEN1
1.000 0.080 14 73198082 missense variant C/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750299
rs63750299
PSEN1
0.925 0.080 14 73186890 missense variant T/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750301
rs63750301
PSEN1
0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 24 1995 2018
dbSNP: rs63750311
rs63750311
PSEN1
0.790 0.240 14 73192647 missense variant A/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750321
rs63750321
PSEN1
1.000 0.080 14 73171024 missense variant T/G snv 4.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750322
rs63750322
PSEN1
0.925 0.080 14 73173654 missense variant A/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750323
rs63750323
PSEN1
1.000 0.080 14 73217129 missense variant G/C;T snv 4.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750353
rs63750353
PSEN1
0.925 0.080 14 73173630 missense variant A/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750391
rs63750391
PSEN1
0.882 0.160 14 73173665 missense variant G/A;C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 24 1995 2018
dbSNP: rs63750418
rs63750418
PSEN1
0.882 0.120 14 73186877 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750450
rs63750450
PSEN1
0.851 0.120 14 73173571 missense variant A/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 24 1995 2018
dbSNP: rs63750522
rs63750522
PSEN1
0.827 0.120 14 73173644 missense variant G/A;C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 20 1995 2018
dbSNP: rs63750543
rs63750543
PSEN1
1.000 0.080 14 73198048 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750550
rs63750550
PSEN1
1.000 0.080 14 73173576 missense variant C/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750569
rs63750569
PSEN1
0.925 0.080 14 73192711 missense variant G/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750577
rs63750577
PSEN1
0.827 0.120 14 73186881 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 20 1995 2018
dbSNP: rs63750588
rs63750588
PSEN1
0.925 0.080 14 73173687 missense variant T/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750590
rs63750590
PSEN1
0.790 0.120 14 73186860 missense variant A/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 24 1995 2018
dbSNP: rs63750592
rs63750592
PSEN1
1.000 0.080 14 73170813 missense variant G/A snv 1.8E-04 2.9E-04
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 24 1995 2018