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: rs121912724
rs121912724 		1.000 0.080 11 116836361 missense variant A/C snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 1988 1994
dbSNP: rs28931574
rs28931574 		0.925 0.120 11 116837053 missense variant C/G;T snv 2.8E-05
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1988 1994
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: 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: 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: 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: rs2070665
rs2070665 		11 116836968 intron variant A/C;G snv 0.85
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
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: rs632153
rs632153 		11 116839523 intron variant G/C;T snv
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs632153
rs632153 		11 116839523 intron variant G/C;T snv
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 2015 2015
dbSNP: rs777407596
rs777407596 		11 116837145 missense variant C/G;T snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs777407596
rs777407596 		11 116837145 missense variant C/G;T snv 4.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs974389711
rs974389711 		1.000 0.040 11 116836210 synonymous variant C/T snv
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121912716
rs121912716 		11 116836221 stop gained T/A snv
CUI: C4015831
Disease: APOLIPOPROTEIN A-I (MARBURG) PHENOTYPE
APOLIPOPROTEIN A-I (MARBURG) PHENOTYPE 		0.700 0
dbSNP: rs121912717
rs121912717 		1.000 0.040 11 116835948 stop gained C/A;T snv 4.0E-06; 1.6E-05
CUI: C4015832
Disease: APOLIPOPROTEIN A-I (MUNSTER4) PHENOTYPE
APOLIPOPROTEIN A-I (MUNSTER4) PHENOTYPE 		0.700 0