B3GAT3, beta-1,3-glucuronyltransferase 3, 26229

N. diseases: 75; N. variants: 5
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: rs372487178
rs372487178 		0.925 0.040 11 62616748 missense variant C/T snv 2.1E-05
CUI: C3278404
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 		0.800 1.000 4 2011 2015
dbSNP: rs387906937
rs387906937 		0.925 0.160 11 62616585 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C3278404
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 		0.800 1.000 4 2011 2015
dbSNP: rs879255269
rs879255269 		1.000 11 62617186 missense variant G/A snv
CUI: C3278404
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 		0.700 1.000 4 2011 2015
dbSNP: rs12794886
rs12794886 		11 62616243 splice region variant G/A;C;T snv 0.13; 0.46
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs535206047
rs535206047 		1.000 11 62620579 stop gained G/A snv 1.2E-05 4.2E-05
CUI: C3278404
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 		0.700 0
dbSNP: rs879255269
rs879255269 		1.000 11 62617186 missense variant G/A snv
CUI: C4310897
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS 		0.700 0
dbSNP: rs372487178
rs372487178 		0.925 0.040 11 62616748 missense variant C/T snv 2.1E-05
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs387906937
rs387906937 		0.925 0.160 11 62616585 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C1837884
Disease: Larsen-Like Syndrome
Larsen-Like Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries 0.010 1.000 1 2015 2015