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: rs952497863
rs952497863
0.925 0.080 20 44414511 missense variant C/T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2014 2014
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: 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: 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: 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