B4GALT7, beta-1,4-galactosyltransferase 7, 11285

N. diseases: 79; N. variants: 9
Disease: Lethal skeletal dysplasia ×
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: rs28937869
rs28937869 		0.851 0.200 5 177608994 missense variant C/T snv 4.8E-05 9.1E-05
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0