APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281865161
rs281865161 		0.925 0.080 21 25897626 missense variant TC/GA mnv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749810
rs63749810 		0.882 0.200 21 25891853 missense variant C/T snv
CUI: C2751536
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs63749964
rs63749964 		0.851 0.080 21 25891783 missense variant A/C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750066
rs63750066 		0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750399
rs63750399 		0.882 0.080 21 25891787 missense variant T/A;C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750643
rs63750643 		0.882 0.080 21 25891793 missense variant T/C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750671
rs63750671 		0.790 0.240 21 25891858 missense variant G/C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750671
rs63750671 		0.790 0.240 21 25891858 missense variant G/C snv
CUI: C2751536
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs63750734
rs63750734 		0.851 0.080 21 25891790 missense variant C/T snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750921
rs63750921 		0.882 0.200 21 25891820 missense variant G/C snv
CUI: C4015785
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT 		0.700 0
dbSNP: rs63750921
rs63750921 		0.882 0.200 21 25891820 missense variant G/C snv
CUI: C2751536
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs63750973
rs63750973 		0.882 0.120 21 25891792 missense variant G/A snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751039
rs63751039 		0.776 0.200 21 25891855 missense variant T/C snv
CUI: C2751536
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs63751039
rs63751039 		0.776 0.200 21 25891855 missense variant T/C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1281129992
rs1281129992 		0.882 0.080 21 25891730 missense variant C/T snv 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs1347585131
rs1347585131 		1.000 0.080 21 26021974 missense variant T/C snv 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs1396086494
rs1396086494 		0.851 0.080 21 26051069 missense variant G/A snv 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs1459435816
rs1459435816 		1.000 0.080 21 26053249 missense variant G/A snv 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs199887707
rs199887707 		0.882 0.080 21 25911840 missense variant C/T snv 3.8E-04 4.9E-04
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs200396597
rs200396597 		1.000 0.080 21 25881743 missense variant C/T snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs200487832
rs200487832 		1.000 0.080 21 25976000 missense variant C/G;T snv 8.0E-06 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs372642708
rs372642708 		0.925 0.080 21 26051152 missense variant C/T snv 2.4E-05 9.8E-05
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs557227002
rs557227002 		1.000 0.080 21 26000158 missense variant G/A snv 2.0E-04 4.9E-05
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs753737986
rs753737986 		0.925 0.200 21 26111983 missense variant T/A snv 4.0E-06
CUI: C1527338
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2007 2007