rs1423415130, XYLT2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cataract
CUI: C0086543
Disease: Cataract
124 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
Compression fracture of vertebral column
CUI: C0262431
Disease: Compression fracture of vertebral column
1 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
Retinal Detachment
CUI: C0035305
Disease: Retinal Detachment
10 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
Shield chest
CUI: C1834124
Disease: Shield chest
2 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
Spondylo-ocular syndrome
CUI: C4225412
Disease: Spondylo-ocular syndrome
5 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0