GANAB, glucosidase II alpha subunit, 23193

N. diseases: 26; N. variants: 17
Disease: Polycystic liver disease ×
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: rs1210158408
rs1210158408 		1.000 0.120 11 62626369 stop gained G/A;T snv 4.0E-06
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1465649718
rs1465649718 		1.000 0.120 11 62629653 missense variant C/G;T snv 8.0E-06
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1565088616
rs1565088616 		1.000 0.120 11 62626639 stop gained G/A snv
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1565092566
rs1565092566 		1.000 0.120 11 62629009 missense variant T/C snv
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1565092899
rs1565092899 		1.000 0.120 11 62629193 splice donor variant C/G snv
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1565093675
rs1565093675 		1.000 0.120 11 62629636 missense variant G/A snv
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1565099895
rs1565099895 		1.000 0.120 11 62633454 frameshift variant A/- del
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1565116806
rs1565116806 		1.000 0.120 11 62646562 missense variant C/T snv
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 0