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: 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: rs753285226
rs753285226
0.882 0.080 20 44406084 missense variant C/A;T snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs952497863
rs952497863
0.925 0.080 20 44414511 missense variant C/T snv
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.020 1.000 2 2014 2016
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: rs3818247
rs3818247
0.925 0.080 20 44428840 intron variant G/C;T snv
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs753476712
rs753476712
1.000 0.040 20 44418452 missense variant G/A snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2012 2012
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: rs773661614
rs773661614
0.925 0.080 20 44406076 missense variant G/A snv 8.0E-06 4.2E-05
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2016 2016
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