EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Chondrosarcoma ×
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: rs587776540
rs587776540 		1.000 0.040 8 118110512 frameshift variant CACTTTGG/- delins
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		Neoplasms 0.700 0
dbSNP: rs773198507
rs773198507 		1.000 0.040 8 118110148 missense variant T/C snv 4.0E-06
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		Neoplasms 0.010 1.000 1 2005 2005