EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Osteochondromatosis ×
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: rs756718693
rs756718693 		0.925 0.120 8 117799833 missense variant G/A snv
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis 		Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2017 2017