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: rs371425292
rs371425292 		0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2001 2017
dbSNP: rs572842823
rs572842823 		0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2001 2017
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 1993 2005
dbSNP: rs1281129992
rs1281129992 		0.882 0.080 21 25891730 missense variant C/T snv 4.0E-06
CUI: C0549117
Disease: Frontal lobe syndrome
Frontal lobe syndrome 		0.010 1.000 1 2003 2003
dbSNP: rs199887707
rs199887707 		0.882 0.080 21 25911840 missense variant C/T snv 3.8E-04 4.9E-04
CUI: C0549117
Disease: Frontal lobe syndrome
Frontal lobe syndrome 		0.010 1.000 1 2003 2003
dbSNP: rs200074159
rs200074159 		0.925 0.080 21 26000036 missense variant T/C snv 2.8E-05 5.6E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2005 2005
dbSNP: rs201085152
rs201085152 		0.925 0.080 21 25975072 missense variant G/A;T snv 1.6E-05; 3.6E-05
CUI: C1405458
Disease: Language Problems
Language Problems 		0.010 1.000 1 2008 2008
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: 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: 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: rs7279104
rs7279104 		21 25942455 non coding transcript exon variant G/A snv 2.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs763852444
rs763852444 		0.882 0.120 21 26112127 missense variant G/C snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs950592627
rs950592627 		0.827 0.200 21 26090015 missense variant G/C snv 7.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
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