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: rs1018185646
rs1018185646 		1.000 0.040 20 44428455 missense variant T/C snv 4.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1031647179
rs1031647179 		1.000 0.080 20 44424278 missense variant C/G;T snv
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 2008 2008
dbSNP: rs1060499693
rs1060499693 		1.000 0.080 20 44418482 missense variant T/A snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1159931590
rs1159931590 		1.000 0.080 20 44414655 missense variant A/G snv 4.3E-06
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 1999 1999
dbSNP: rs1223493898
rs1223493898 		0.851 0.120 20 44406090 missense 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 0.050 1.000 5 2005 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: 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: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2008 2008
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: rs1240512008
rs1240512008 		1.000 0.040 20 44413780 missense variant G/A snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1280663753
rs1280663753 		1.000 0.080 20 44414548 inframe deletion AGA/- delins
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1375557127
rs1375557127 		0.925 0.080 20 44424123 missense variant G/A snv 4.0E-06
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 6 2000 2016
dbSNP: rs1375557127
rs1375557127 		0.925 0.080 20 44424123 missense variant G/A snv 4.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 6 2000 2016
dbSNP: rs137853334
rs137853334 		1.000 0.080 20 44419813 stop gained C/G;T snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137853335
rs137853335 		1.000 0.080 20 44413795 stop gained C/T snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137853336
rs137853336 		0.851 0.080 20 44413714 missense variant C/G;T snv 4.0E-06; 8.0E-05
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 4 1997 2007
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: rs137853336
rs137853336 		0.851 0.080 20 44413714 missense variant C/G;T snv 4.0E-06; 8.0E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs137853336
rs137853336 		0.851 0.080 20 44413714 missense variant C/G;T snv 4.0E-06; 8.0E-05
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System 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: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs137853337
rs137853337 		1.000 0.080 20 44428409 missense variant G/A snv 8.0E-06; 8.0E-06 7.0E-06
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 1998 1998
dbSNP: rs137853338
rs137853338 		1.000 0.080 20 44424243 missense variant T/G snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 4 1997 2007
dbSNP: rs1385251852
rs1385251852 		0.925 0.080 20 44406208 frameshift variant G/- delins
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1385251852
rs1385251852 		0.925 0.080 20 44406208 frameshift variant G/- delins
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2013 2013