EXT2, exostosin glycosyltransferase 2, 2132

N. diseases: 137; N. variants: 34
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: rs76901081
rs76901081
1.000 0.040 11 44124941 missense variant G/A snv 5.7E-04 2.0E-04
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
Neoplasms 0.010 1.000 1 2005 2005