APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Familial Alzheimer Disease (FAD) ×
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: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.100 0.909 11 1991 2019
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: 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: 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: rs781049584
rs781049584 		0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.040 1.000 4 1997 2007
dbSNP: rs193922916
rs193922916 		0.827 0.080 21 25897619 missense variant G/A;C snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2010 2017
dbSNP: rs63750847
rs63750847 		0.790 0.120 21 25897620 missense variant C/T snv 4.5E-04 3.0E-04
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2014 2016
dbSNP: rs762508225
rs762508225 		0.925 0.080 21 26000044 missense variant T/G snv 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 1996 2008
dbSNP: rs1220355764
rs1220355764 		0.925 0.080 21 26022037 missense variant T/C snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1223904774
rs1223904774 		0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
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: rs1302192564
rs1302192564 		0.925 0.080 21 26000164 missense variant G/A snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1307925400
rs1307925400 		1.000 0.080 21 26112001 missense variant C/G;T snv 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
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: rs1451944248
rs1451944248 		0.925 0.080 21 25975964 missense variant G/A snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
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: 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: rs372702043
rs372702043 		0.925 0.120 21 25976006 missense variant G/A snv 4.0E-06 2.8E-05
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
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: rs63750064
rs63750064 		0.925 0.080 21 25897605 missense variant C/G;T snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs63750066
rs63750066 		0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004