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: rs1057518919
rs1057518919
PSEN1
0.851 0.120 14 73171023 missense variant T/G snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.700 0
dbSNP: rs1057518919
rs1057518919
PSEN1
0.851 0.120 14 73171023 missense variant T/G snv
CUI: C0497327
Disease: Dementia
Dementia 		0.700 0
dbSNP: rs121917807
rs121917807
PSEN1
0.925 0.160 14 73198057 missense variant G/A snv
CUI: C1843015
Disease: Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 		0.700 0
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: rs1566630884
rs1566630884
PSEN1
1.000 0.120 14 73173636 missense variant G/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs1566630910
rs1566630910
PSEN1
1.000 0.080 14 73173651 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
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: rs1566656702
rs1566656702
PSEN1
1.000 0.080 14 73217173 missense variant G/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1566657804
rs1566657804
PSEN1
1.000 0.080 14 73219182 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs267606983
rs267606983
PSEN1
0.925 0.080 14 73192744 missense variant G/C snv
CUI: C4015781
Disease: ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES 		0.700 0
dbSNP: rs281875357
rs281875357
PSEN1
1.000 0.080 14 73219185 missense variant GC/TG mnv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63749806
rs63749806
PSEN1
0.827 0.080 14 73186902 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63749824
rs63749824
PSEN1
0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 0
dbSNP: rs63749824
rs63749824
PSEN1
0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs63749824
rs63749824
PSEN1
0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.700 0
dbSNP: rs63749835
rs63749835
PSEN1
0.851 0.080 14 73192799 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63749836
rs63749836
PSEN1
0.827 0.160 14 73192786 missense variant G/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs63749836
rs63749836
PSEN1
0.827 0.160 14 73192786 missense variant G/A snv
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 0
dbSNP: rs63749836
rs63749836
PSEN1
0.827 0.160 14 73192786 missense variant G/A snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 0
dbSNP: rs63749836
rs63749836
PSEN1
0.827 0.160 14 73192786 missense variant G/A snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.700 0
dbSNP: rs63749880
rs63749880
PSEN1
0.925 0.080 14 73192720 missense variant G/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63749891
rs63749891
PSEN1
0.851 0.080 14 73198094 missense variant G/C;T 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: rs63749937
rs63749937
PSEN1
0.925 0.080 14 73198105 missense variant C/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
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: rs63750219
rs63750219
PSEN1
1.000 0.080 14 73206385 splice acceptor variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0