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: 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: rs2144908
rs2144908 		0.851 0.120 20 44357077 intron variant G/A snv 0.18
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 1.000 10 2006 2019
dbSNP: rs2144908
rs2144908 		0.851 0.120 20 44357077 intron variant G/A snv 0.18
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
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: rs2144908
rs2144908 		0.851 0.120 20 44357077 intron variant G/A snv 0.18
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
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: rs4812829
rs4812829 		0.925 0.120 20 44360627 intron variant G/A snv 0.18
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.830 1.000 7 2011 2017
dbSNP: rs4812829
rs4812829 		0.925 0.120 20 44360627 intron variant G/A snv 0.18
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 0.500 2 2016 2018
dbSNP: rs4812829
rs4812829 		0.925 0.120 20 44360627 intron variant G/A snv 0.18
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs16988991
rs16988991 		1.000 0.080 20 44361137 intron variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6103716
rs6103716 		1.000 0.080 20 44370990 intron variant A/C snv 0.37
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6031558
rs6031558 		1.000 0.080 20 44371003 intron variant C/G snv 0.76
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs4810426
rs4810426 		1.000 0.080 20 44373081 intron variant C/T snv 0.14
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4812831
rs4812831 		1.000 0.080 20 44389620 intron variant G/A snv 0.12
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6130608
rs6130608 		1.000 0.040 20 44395368 intron variant T/C snv 0.33
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2425637
rs2425637 		0.925 0.080 20 44395409 intron variant G/T snv 0.42
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs2425637
rs2425637 		0.925 0.080 20 44395409 intron variant G/T snv 0.42
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs2425637
rs2425637 		0.925 0.080 20 44395409 intron variant G/T snv 0.42
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2425640
rs2425640 		1.000 0.080 20 44399397 intron variant A/G snv 0.63
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs3212172
rs3212172 		1.000 0.080 20 44399750 intron variant A/C;G snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs750703108
rs750703108 		1.000 0.080 20 44401424 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1993 1993
dbSNP: rs2071197
rs2071197 		0.925 0.120 20 44401795 intron variant G/A snv 0.11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2005 2011
dbSNP: rs2071197
rs2071197 		0.925 0.120 20 44401795 intron variant G/A snv 0.11
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs736820
rs736820 		20 44405376 intron variant G/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs736824
rs736824 		1.000 0.040 20 44406020 intron variant T/C snv 0.50 0.45
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015