BGN, biglycan, 633

N. diseases: 253; N. variants: 7
Disease: Spondyloepimetaphyseal Dysplasia, X-Linked ×
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: rs879255604
rs879255604 		1.000 0.080 X 153505950 missense variant A/G snv
CUI: C1848097
Disease: Spondyloepimetaphyseal Dysplasia, X-Linked
Spondyloepimetaphyseal Dysplasia, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2016 2016
dbSNP: rs879255605
rs879255605 		1.000 0.080 X 153507052 missense variant G/T snv
CUI: C1848097
Disease: Spondyloepimetaphyseal Dysplasia, X-Linked
Spondyloepimetaphyseal Dysplasia, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2016 2016