HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: Hepatocellular Adenoma ×
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: rs1169304
rs1169304 		1.000 0.080 12 120999418 missense variant T/C snv 0.82 0.75
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs137853238
rs137853238 		0.807 0.200 12 120994265 missense variant G/A snv
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2464196
rs2464196 		0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs769086289
rs769086289 		1.000 0.080 12 120993678 stop gained C/A;T snv 3.6E-05; 8.0E-06
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2003 2003