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: 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: 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: rs4812829
rs4812829 		0.925 0.120 20 44360627 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 0.830 1.000 7 2011 2017
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: 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: 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: 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: 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: 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: rs1392795567
rs1392795567 		0.925 0.080 20 44414663 splice donor variant G/A snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 4 1977 2013
dbSNP: rs1392795567
rs1392795567 		0.925 0.080 20 44414663 splice donor variant G/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 1.000 4 1977 2013
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: 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
dbSNP: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 4 2009 2013
dbSNP: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 4 2010 2019
dbSNP: rs2071197
rs2071197 		0.925 0.120 20 44401795 intron variant G/A snv 0.11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2005 2011
dbSNP: rs3212183
rs3212183 		0.925 0.080 20 44406498 intron variant C/T snv 0.58
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 0.667 3 2005 2017
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: rs1800961
rs1800961 		0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2016 2019