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: rs6031598
rs6031598 		20 44427509 intron variant G/A;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2019 2019
dbSNP: rs142773928
rs142773928 		20 44410080 intron variant G/A;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs6031596
rs6031596 		20 44426231 intron variant A/G snv 0.41
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
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: 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: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.800 1.000 7 2010 2017
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant 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 6 2010 2017
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 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 0.700 0
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C4274078
Disease: Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to HNF4A deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs780813696
rs780813696 		0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2014 2015
dbSNP: rs780813696
rs780813696 		0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2015
dbSNP: rs780813696
rs780813696 		0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2015
dbSNP: rs780813696
rs780813696 		0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2014 2015
dbSNP: rs780813696
rs780813696 		0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 11 2009 2019
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: 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: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 5 2010 2018
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: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 4 2011 2019