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: rs1555815393
rs1555815393 		1.000 20 44414578 stop gained T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1996 2014
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: 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: 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: rs1481714420
rs1481714420 		0.925 0.080 20 44406169 missense variant G/C snv 4.0E-06
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 1998 1998
dbSNP: rs193922472
rs193922472 		1.000 0.080 20 44413735 missense variant A/G snv 5.6E-05 5.6E-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 1998 1998
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: rs1486917678
rs1486917678 		1.000 0.080 20 44424101 missense variant C/T snv 7.0E-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: 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: rs1568724014
rs1568724014 		0.925 0.080 20 44407421 stop gained C/T snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 4 2000 2013
dbSNP: rs1568724014
rs1568724014 		0.925 0.080 20 44407421 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 1.000 4 2000 2013
dbSNP: rs763010207
rs763010207 		0.925 0.080 20 44414531 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2000 2001
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: rs370239205
rs370239205 		0.882 0.080 20 44413708 missense variant C/A;T snv 4.0E-05; 4.0E-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 2000 2000
dbSNP: rs370239205
rs370239205 		0.882 0.080 20 44413708 missense variant C/A;T snv 4.0E-05; 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 0.010 1.000 1 2000 2000
dbSNP: rs754907741
rs754907741 		1.000 0.040 20 44414567 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
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
dbSNP: rs763010207
rs763010207 		0.925 0.080 20 44414531 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs763010207
rs763010207 		0.925 0.080 20 44414531 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs779271027
rs779271027 		1.000 0.040 20 44413723 missense variant A/C;G snv 4.0E-06; 8.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs779271027
rs779271027 		1.000 0.040 20 44413723 missense variant A/C;G snv 4.0E-06; 8.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs952497863
rs952497863 		0.925 0.080 20 44414511 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.070 1.000 7 2003 2017
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