HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
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: rs779555087
rs779555087 		0.882 0.080 20 44414561 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs2144908
rs2144908 		0.851 0.120 20 44357077 intron variant G/A snv 0.18
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2144908
rs2144908 		0.851 0.120 20 44357077 intron variant G/A snv 0.18
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 4 2011 2019
dbSNP: rs769394388
rs769394388 		20 44355829 missense variant G/A;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs780813696
rs780813696 		0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2015
dbSNP: rs1568731279
rs1568731279 		0.925 0.160 20 44414506 splice acceptor variant G/A snv
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1223493898
rs1223493898 		0.851 0.120 20 44406090 missense variant G/A;C snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1223493898
rs1223493898 		0.851 0.120 20 44406090 missense variant G/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1223493898
rs1223493898 		0.851 0.120 20 44406090 missense variant G/A;C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs780813696
rs780813696 		0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2014 2015
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs137853336
rs137853336 		0.851 0.080 20 44413714 missense variant C/G;T snv 4.0E-06; 8.0E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs753285226
rs753285226 		0.882 0.080 20 44406084 missense variant C/A;T snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs952497863
rs952497863 		0.925 0.080 20 44414511 missense variant C/T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1240512008
rs1240512008 		1.000 0.040 20 44413780 missense variant G/A snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs3818247
rs3818247 		0.925 0.080 20 44428840 intron variant G/C;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs753476712
rs753476712 		1.000 0.040 20 44418452 missense variant G/A snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs754907741
rs754907741 		1.000 0.040 20 44414567 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2000 2000