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: 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: rs2829976
rs2829976 		21 25900162 intron variant T/G snv 3.6E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2829976
rs2829976 		21 25900162 intron variant T/G snv 3.6E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2829976
rs2829976 		21 25900162 intron variant T/G snv 3.6E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2829978
rs2829978 		21 25902056 intron variant T/C snv 2.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2829978
rs2829978 		21 25902056 intron variant T/C snv 2.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2829978
rs2829978 		21 25902056 intron variant T/C snv 2.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2830077
rs2830077 		1.000 0.080 21 26130406 intron variant C/A snv 0.38
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs364048
rs364048 		1.000 0.080 21 26171723 intron variant T/C snv 8.4E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs367709245
rs367709245 		1.000 0.080 21 25891634 intron variant TACTTA/- delins 2.3E-03
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs3787629
rs3787629 		21 25965603 intron variant T/C snv 0.11
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 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: 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: 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: rs7276737
rs7276737 		21 25885689 intron variant C/T snv 0.18
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs9636774
rs9636774 		21 25967316 intron variant C/T snv 5.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9984764
rs9984764 		21 26125180 intron variant G/A snv 1.1E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9984764
rs9984764 		21 26125180 intron variant G/A snv 1.1E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9984764
rs9984764 		21 26125180 intron variant G/A snv 1.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
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