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: 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: 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: rs1200601649
rs1200601649 		0.925 0.080 21 26022022 missense variant A/C snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs1200601649
rs1200601649 		0.925 0.080 21 26022022 missense variant A/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs201093867
rs201093867 		0.925 0.080 21 26021995 missense variant A/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs201093867
rs201093867 		0.925 0.080 21 26021995 missense variant A/C snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs2096488
rs2096488 		1.000 0.040 21 25971876 intron variant A/C snv 0.17
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3827216
rs3827216 		21 25924954 intron variant A/C snv 1.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs63749964
rs63749964 		0.851 0.080 21 25891783 missense variant A/C snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
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: rs1315025573
rs1315025573 		0.925 0.080 21 25891849 missense variant A/C;G snv 4.0E-06
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs1315025573
rs1315025573 		0.925 0.080 21 25891849 missense variant A/C;G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs466448
rs466448 		0.925 0.040 21 26171790 intron variant A/C;G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs466448
rs466448 		0.925 0.040 21 26171790 intron variant A/C;G snv
CUI: C4531100
Disease: Negative affectivity
Negative affectivity 		0.010 1.000 1 2013 2013
dbSNP: rs466448
rs466448 		0.925 0.040 21 26171790 intron variant A/C;G snv
CUI: C0749263
Disease: temporal pain
temporal pain 		0.010 1.000 1 2013 2013
dbSNP: rs466448
rs466448 		0.925 0.040 21 26171790 intron variant A/C;G snv
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		0.010 1.000 1 2013 2013
dbSNP: rs113145702
rs113145702 		1.000 0.080 21 25955632 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1191863771
rs1191863771 		0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1191863771
rs1191863771 		0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1191863771
rs1191863771 		0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs466433
rs466433 		1.000 0.080 21 26171645 intron variant A/G snv 8.3E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs63751122
rs63751122 		0.925 0.080 21 25891765 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.710 1.000 1 2019 2019
dbSNP: rs63751122
rs63751122 		0.925 0.080 21 25891765 missense variant A/G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs771317418
rs771317418 		0.925 0.080 21 26051117 missense variant A/G snv 2.0E-05 2.1E-05
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs771317418
rs771317418 		0.925 0.080 21 26051117 missense variant A/G snv 2.0E-05 2.1E-05
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1999 1999