B3GLCT, beta 3-glucosyltransferase, 145173

N. diseases: 157; N. variants: 11
Disease: Krause-Kivlin syndrome ×
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: rs80338851
rs80338851 		0.882 0.320 13 31269278 splice donor variant G/A snv 7.0E-04 8.1E-04
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.710 1.000 9 2006 2019
dbSNP: rs267606675
rs267606675 		1.000 0.160 13 31317679 missense variant G/A snv
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs767361165
rs767361165 		1.000 0.160 13 31247967 splice donor variant G/A snv 8.0E-06 7.0E-06
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs80338850
rs80338850 		1.000 0.160 13 31247104 splice region variant G/A snv 1.2E-05 2.8E-05
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs80338852
rs80338852 		0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0