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: rs17125457
rs17125457
PSEN1
14 73191429 intron variant C/T snv 0.16
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 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: 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: 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: rs63750082
rs63750082
PSEN1
0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 31 1995 2018
dbSNP: rs63750083
rs63750083
PSEN1
0.732 0.160 14 73219177 missense variant C/A;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 29 1995 2018
dbSNP: rs63750082
rs63750082
PSEN1
0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 8 2001 2017
dbSNP: rs63750082
rs63750082
PSEN1
0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.700 1.000 8 2001 2017
dbSNP: rs63750082
rs63750082
PSEN1
0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 8 2001 2017
dbSNP: rs63750083
rs63750083
PSEN1
0.732 0.160 14 73219177 missense variant C/A;T snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.700 1.000 6 2006 2017
dbSNP: rs63750083
rs63750083
PSEN1
0.732 0.160 14 73219177 missense variant C/A;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 6 2006 2017
dbSNP: rs63750083
rs63750083
PSEN1
0.732 0.160 14 73219177 missense variant C/A;T snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 6 2006 2017
dbSNP: rs63751287
rs63751287
PSEN1
0.742 0.120 14 73192792 missense variant A/G;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.710 1.000 3 2001 2018
dbSNP: rs63751287
rs63751287
PSEN1
0.742 0.120 14 73192792 missense variant A/G;T snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.700 1.000 3 2001 2018
dbSNP: rs63751287
rs63751287
PSEN1
0.742 0.120 14 73192792 missense variant A/G;T snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 3 2001 2018
dbSNP: rs63751287
rs63751287
PSEN1
0.742 0.120 14 73192792 missense variant A/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 3 2001 2018
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 24 1995 2018
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.700 1.000 1 2014 2014
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.700 1.000 1 2014 2014
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		0.700 1.000 1 2014 2014
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2014 2014
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 1.000 1 2014 2014