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: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		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: 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: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.700 1.000 1 2014 2014
dbSNP: rs661
rs661
PSEN1
0.807 0.120 14 73217225 missense variant G/A;T snv 4.0E-06
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 17 1995 2017
dbSNP: rs63750053
rs63750053
PSEN1
0.827 0.120 14 73192721 missense variant G/T snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 9 1998 2017
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: 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: 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: rs63750900
rs63750900
PSEN1
0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 6 1996 2017
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 5 1995 2015
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: 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: rs1566650594
rs1566650594
PSEN1
0.851 0.120 14 73206384 splice acceptor variant A/T snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 3 2010 2017
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: 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: 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: rs63750590
rs63750590
PSEN1
0.790 0.120 14 73186860 missense variant A/G 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: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 0
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C4015782
Disease: ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS 		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: rs63750599
rs63750599
PSEN1
0.827 0.160 14 73170963 missense variant T/C 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: 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: rs63750886
rs63750886
PSEN1
0.851 0.080 14 73198072 missense variant C/G snv
CUI: C4015781
Disease: ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES 		0.700 0
dbSNP: rs63750053
rs63750053
PSEN1
0.827 0.120 14 73192721 missense variant G/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 32 1995 2018