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: rs4812829
rs4812829
0.925 0.120 20 44360627 intron variant G/A snv 0.18
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.830 1.000 7 2011 2017
dbSNP: rs1800961
rs1800961
0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
High density lipoprotein measurement
0.800 1.000 11 2009 2019
dbSNP: rs587777732
rs587777732
0.763 0.240 20 44406195 missense variant C/T snv
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
0.800 1.000 7 2010 2017
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
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
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
dbSNP: rs1800961
rs1800961
0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 4 2010 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: rs1375557127
rs1375557127
0.925 0.080 20 44424123 missense variant G/A snv 4.0E-06
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
Maturity-Onset Diabetes of the Young, Type 1
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 6 2010 2017
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
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
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: 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
Low density lipoprotein cholesterol measurement
0.700 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: C0337428
Disease: Fibrinogen assay
Fibrinogen assay
0.700 1.000 2 2016 2017
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: rs137853337
rs137853337
1.000 0.080 20 44428409 missense variant G/A snv 8.0E-06; 8.0E-06 7.0E-06
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs1385251852
rs1385251852
0.925 0.080 20 44406208 frameshift variant G/- delins
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1385251852
rs1385251852
0.925 0.080 20 44406208 frameshift variant G/- delins
Maturity-Onset Diabetes of the Young, Type 1
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2013 2013
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: rs16988991
rs16988991
1.000 0.080 20 44361137 intron variant G/A;C snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019