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: 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