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: 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: 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: 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: 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: 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: rs1885088
rs1885088 		1.000 0.080 20 44410400 intron variant G/A snv 0.15
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: 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: 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: rs370239205
rs370239205 		0.882 0.080 20 44413708 missense variant C/A;T snv 4.0E-05; 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 2006 2006
dbSNP: rs3818247
rs3818247 		0.925 0.080 20 44428840 intron variant G/C;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 2006 2006
dbSNP: rs753285226
rs753285226 		0.882 0.080 20 44406084 missense variant C/A;T snv 4.0E-06
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 2006 2006
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: 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