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: rs63751102
rs63751102
PSEN1
1.000 0.080 14 73198049 missense variant G/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751106
rs63751106
PSEN1
0.827 0.080 14 73173643 missense variant T/A;C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751130
rs63751130
PSEN1
1.000 0.080 14 73192798 missense variant C/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751139
rs63751139
PSEN1
1.000 0.080 14 73198115 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751144
rs63751144
PSEN1
1.000 0.080 14 73186892 missense variant C/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 0
dbSNP: rs63751164
rs63751164
PSEN1
1.000 0.080 14 73211874 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751174
rs63751174
PSEN1
1.000 0.080 14 73211886 missense variant G/A;C snv 4.0E-05; 1.2E-05
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751210
rs63751210
PSEN1
0.882 0.080 14 73186878 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751223
rs63751223
PSEN1
0.807 0.160 14 73219161 missense variant G/C snv
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 0
dbSNP: rs63751223
rs63751223
PSEN1
0.807 0.160 14 73219161 missense variant G/C snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 0
dbSNP: rs63751223
rs63751223
PSEN1
0.807 0.160 14 73219161 missense variant G/C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs63751223
rs63751223
PSEN1
0.807 0.160 14 73219161 missense variant G/C snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.700 0
dbSNP: rs63751254
rs63751254
PSEN1
0.851 0.160 14 73217210 missense variant A/G 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: rs63751292
rs63751292
PSEN1
1.000 0.080 14 73173688 missense variant A/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751309
rs63751309
PSEN1
0.882 0.080 14 73192733 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751316
rs63751316
PSEN1
1.000 0.080 14 73219139 missense variant G/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751420
rs63751420
PSEN1
0.925 0.080 14 73198040 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751441
rs63751441
PSEN1
0.882 0.080 14 73173684 missense variant C/G;T snv 5.2E-05
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63751484
rs63751484
PSEN1
0.925 0.080 14 73186867 missense variant G/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs906454643
rs906454643
PSEN1
0.882 0.080 14 73217219 missense variant T/C snv 4.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63750886
rs63750886
PSEN1
0.851 0.080 14 73198072 missense variant C/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 1 2003 2003
dbSNP: rs63750886
rs63750886
PSEN1
0.851 0.080 14 73198072 missense variant C/G snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.700 1.000 1 2003 2003
dbSNP: rs63751399
rs63751399
PSEN1
0.882 0.120 14 73171047 missense variant T/A;C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.810 1.000 1 2004 2010
dbSNP: rs63749824
rs63749824
PSEN1
0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 4 2010 2014