Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853236
rs137853236
HNF1A
0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05
CUI: C1840646
Disease: Hepatic Adenomas, Familial
Hepatic Adenomas, Familial 		0.700 0
dbSNP: rs1555212014
rs1555212014
HNF1A
0.807 0.280 12 120994264 missense variant C/T snv
CUI: C1840646
Disease: Hepatic Adenomas, Familial
Hepatic Adenomas, Familial 		0.700 0
dbSNP: rs587776825
rs587776825
HNF1A
0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins
CUI: C1840646
Disease: Hepatic Adenomas, Familial
Hepatic Adenomas, Familial 		0.700 0
dbSNP: rs754729248
rs754729248
HNF1A
0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05
CUI: C1840646
Disease: Hepatic Adenomas, Familial
Hepatic Adenomas, Familial 		0.700 0