APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
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: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.030 1.000 3 2011 2018
dbSNP: rs1264352930
rs1264352930 		0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2012 2015
dbSNP: rs1264352930
rs1264352930 		0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2012 2015
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2019
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2017
dbSNP: rs1217777010
rs1217777010 		1.000 0.040 11 116836182 missense variant C/T snv 4.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121912717
rs121912717 		1.000 0.040 11 116835948 stop gained C/A;T snv 4.0E-06; 1.6E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1264352930
rs1264352930 		0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1264352930
rs1264352930 		0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1264352930
rs1264352930 		0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1264352930
rs1264352930 		0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 1996 1996
dbSNP: rs12721026
rs12721026 		1.000 0.080 11 116835452 upstream gene variant T/G snv 4.9E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1384889210
rs1384889210 		0.827 0.040 11 116836193 missense variant C/A snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1384889210
rs1384889210 		0.827 0.040 11 116836193 missense variant C/A snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1384889210
rs1384889210 		0.827 0.040 11 116836193 missense variant C/A snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1384889210
rs1384889210 		0.827 0.040 11 116836193 missense variant C/A snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1384889210
rs1384889210 		0.827 0.040 11 116836193 missense variant C/A snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1799837
rs1799837 		1.000 0.080 11 116837537 5 prime UTR variant C/T snv 6.0E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2070665
rs2070665 		11 116836968 intron variant A/C;G snv 0.85
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs369066087
rs369066087 		1.000 0.080 11 116837117 synonymous variant G/A;C snv 2.0E-05 2.8E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs387906571
rs387906571 		0.925 0.120 11 116836094 missense variant C/G snv
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
Amyloidosis, Primary Cutaneous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 1999 1999
dbSNP: rs5069
rs5069 		1.000 0.080 11 116837538 5 prime UTR variant G/A snv 0.11
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5069
rs5069 		1.000 0.080 11 116837538 5 prime UTR variant G/A snv 0.11
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs5070
rs5070 		0.882 0.160 11 116837304 intron variant A/G snv 0.56 0.60
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2017 2017
dbSNP: rs5070
rs5070 		0.882 0.160 11 116837304 intron variant A/G snv 0.56 0.60
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017