rs1316347883, CHST3

N. diseases: 4
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.
Knee joint valgus deformity
CUI: C0576093
Disease: Knee joint valgus deformity
5 0.851 0.080 10 72007935 missense variant G/A;C snv 6.9E-06 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.851 0.080 10 72007935 missense variant G/A;C snv 6.9E-06 0.700 0
Spondyloepiphyseal dysplasia, congenita
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
30 0.851 0.080 10 72007935 missense variant G/A;C snv 6.9E-06 0.700 0
Spondyloepiphyseal dysplasia, Omani type
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
16 0.851 0.080 10 72007935 missense variant G/A;C snv 6.9E-06 0.700 0