XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7
Disease: Spondylo-ocular syndrome ×
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: rs1423415130
rs1423415130 		0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.700 0
dbSNP: rs797044806
rs797044806 		0.925 17 50354465 frameshift variant -/C delins
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.700 0
dbSNP: rs797044807
rs797044807 		1.000 17 50354013 frameshift variant G/- delins
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.700 0