HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Hyperglycemia ×
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: 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: 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: 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: 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: rs1018185646
rs1018185646 		1.000 0.040 20 44428455 missense variant T/C snv 4.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018