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: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.900 1.000 58 1991 2019
dbSNP: rs63750671
rs63750671 		0.790 0.240 21 25891858 missense variant G/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.760 1.000 26 1991 2016
dbSNP: rs63750066
rs63750066 		0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.730 1.000 25 1991 2017
dbSNP: rs63750734
rs63750734 		0.851 0.080 21 25891790 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.730 1.000 23 1991 2019
dbSNP: rs63749964
rs63749964 		0.851 0.080 21 25891783 missense variant A/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.710 1.000 21 1991 2005
dbSNP: rs63750064
rs63750064 		0.925 0.080 21 25897605 missense variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.720 1.000 21 1991 2019
dbSNP: rs63750399
rs63750399 		0.882 0.080 21 25891787 missense variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1991 2004
dbSNP: rs63750643
rs63750643 		0.882 0.080 21 25891793 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1991 2004
dbSNP: rs1386984902
rs1386984902 		0.790 0.160 21 26000095 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 1.000 12 2003 2020
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.100 0.909 11 1991 2019
dbSNP: rs63750847
rs63750847 		0.790 0.120 21 25897620 missense variant C/T snv 4.5E-04 3.0E-04
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 0.818 11 2012 2018
dbSNP: rs572842823
rs572842823 		0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 1.000 10 1998 2018
dbSNP: rs63749810
rs63749810 		0.882 0.200 21 25891853 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.720 1.000 10 2001 2019
dbSNP: rs63750066
rs63750066 		0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.700 1.000 10 1992 2018
dbSNP: rs63751039
rs63751039 		0.776 0.200 21 25891855 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.790 1.000 9 2001 2019
dbSNP: rs371425292
rs371425292 		0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.080 1.000 8 1998 2018
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.080 1.000 8 1996 2019
dbSNP: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.080 1.000 8 2002 2014
dbSNP: rs572842823
rs572842823 		0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.070 1.000 7 1994 2016
dbSNP: rs1223904774
rs1223904774 		0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.060 1.000 6 1997 2014
dbSNP: rs371425292
rs371425292 		0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.060 1.000 6 1995 2016
dbSNP: rs63749964
rs63749964 		0.851 0.080 21 25891783 missense variant A/C snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.060 1.000 6 1992 2007
dbSNP: rs63750579
rs63750579 		0.742 0.280 21 25891856 missense variant C/G;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 1.000 6 1990 2010
dbSNP: rs1231783932
rs1231783932 		0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.050 1.000 5 1997 2008
dbSNP: rs1386984902
rs1386984902 		0.790 0.160 21 26000095 missense variant G/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.040 1.000 4 2006 2020