GANAB, glucosidase II alpha subunit, 23193

N. diseases: 26; N. variants: 17
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: rs118093058
rs118093058 		11 62646201 intron variant G/A;T snv 0.10
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs770519542
rs770519542 		0.925 11 62630788 missense variant C/A;T snv 4.0E-06
CUI: C3887964
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 		0.700 1.000 1 2016 2016
dbSNP: rs7949030
rs7949030 		11 62627409 intron variant A/G snv 0.36
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs879255642
rs879255642 		0.925 11 62631032 missense variant G/C snv
CUI: C3887964
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 		0.700 1.000 1 2016 2016
dbSNP: rs879255643
rs879255643 		0.925 11 62626633 missense variant G/A snv
CUI: C3887964
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 		0.700 1.000 1 2016 2016
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
dbSNP: rs750723025
rs750723025 		1.000 0.120 11 62646584 inframe deletion TACCGC/- delins 7.0E-06
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs752158933
rs752158933 		1.000 11 62639458 frameshift variant CT/- delins 4.0E-06 7.0E-06
CUI: C4693949
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE 		0.700 0
dbSNP: rs770519542
rs770519542 		0.925 11 62630788 missense variant C/A;T snv 4.0E-06
CUI: C4693949
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE 		0.700 0
dbSNP: rs879255641
rs879255641 		1.000 11 62629281 frameshift variant CT/- del
CUI: C3887964
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 		0.700 0
dbSNP: rs879255642
rs879255642 		0.925 11 62631032 missense variant G/C snv
CUI: C4693950
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE 		0.700 0
dbSNP: rs879255643
rs879255643 		0.925 11 62626633 missense variant G/A snv
CUI: C4693949
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE 		0.700 0
dbSNP: rs886037848
rs886037848 		1.000 11 62626328 splice donor variant ATTACC/- delins
CUI: C4693949
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE 		0.700 0