APOA5, apolipoprotein A5, 116519

N. diseases: 107; N. variants: 22
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: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2009 2018
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C4524040
Disease: Atherogenic dyslipidaemia
Atherogenic dyslipidaemia 		0.010 1.000 1 2015 2015
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C4524040
Disease: Atherogenic dyslipidaemia
Atherogenic dyslipidaemia 		0.010 1.000 1 2015 2015
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2009 2018
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2007 2013
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2008 2010
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2010 2016
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2007 2009