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: rs2144908
rs2144908
0.851 0.120 20 44357077 intron variant G/A snv 0.18
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2425637
rs2425637
0.925 0.080 20 44395409 intron variant G/T snv 0.42
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3212183
rs3212183
0.925 0.080 20 44406498 intron variant C/T snv 0.58
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6130608
rs6130608
1.000 0.040 20 44395368 intron variant T/C snv 0.33
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs736824
rs736824
1.000 0.040 20 44406020 intron variant T/C snv 0.50 0.45
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs745975
rs745975
0.925 0.080 20 44406053 splice region variant C/T snv 0.20 0.18
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015