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: rs1566638673
rs1566638673
PSEN1
1.000 0.080 14 73186881 inframe insertion -/TAT delins
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
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: 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: rs63750009
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
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: 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: rs63750009
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
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
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: rs63750861
rs63750861
PSEN1
1.000 0.080 14 73192732 missense variant A/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751272
rs63751272
PSEN1
1.000 0.080 14 73173587 missense variant A/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 0
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 28 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: 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: rs63750450
rs63750450
PSEN1
0.851 0.120 14 73173571 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 4 1998 2017
dbSNP: rs63750450
rs63750450
PSEN1
0.851 0.120 14 73173571 missense variant A/G snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.700 1.000 4 1998 2017
dbSNP: rs63750450
rs63750450
PSEN1
0.851 0.120 14 73173571 missense variant A/G snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 4 1998 2017
dbSNP: rs63751037
rs63751037
PSEN1
0.790 0.080 14 73173642 missense variant A/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 4 2010 2014
dbSNP: rs63751278
rs63751278
PSEN1
0.827 0.120 14 73173631 missense variant A/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 4 1997 2017
dbSNP: rs63751278
rs63751278
PSEN1
0.827 0.120 14 73173631 missense variant A/G snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.700 1.000 4 1997 2017
dbSNP: rs63751278
rs63751278
PSEN1
0.827 0.120 14 73173631 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 4 1997 2017
dbSNP: rs63751278
rs63751278
PSEN1
0.827 0.120 14 73173631 missense variant A/G snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 4 1997 2017
dbSNP: rs1566630811
rs1566630811
PSEN1
1.000 0.120 14 73173591 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs63750590
rs63750590
PSEN1
0.790 0.120 14 73186860 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0