rs879255273, CCN6

N. diseases: 7
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.
Abnormality of the hip bone
CUI: C4021735
Disease: Abnormality of the hip bone
3 0.925 0.040 6 112064998 splice donor variant G/A snv 0.700 0
Enlarged epiphyses
CUI: C1833328
Disease: Enlarged epiphyses
1 0.925 0.040 6 112064998 splice donor variant G/A snv 0.700 0
Enlarged metacarpophalangeal joints
CUI: C1859700
Disease: Enlarged metacarpophalangeal joints
1 0.925 0.040 6 112064998 splice donor variant G/A snv 0.700 0
Enlargement of the proximal femoral epiphysis
CUI: C1859697
Disease: Enlargement of the proximal femoral epiphysis
1 0.925 0.040 6 112064998 splice donor variant G/A snv 0.700 0
Flattened epiphysis
CUI: C1857527
Disease: Flattened epiphysis
3 0.925 0.040 6 112064998 splice donor variant G/A snv 0.700 0
Flexion contracture of proximal interphalangeal joint
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
7 0.925 0.040 6 112064998 splice donor variant G/A snv 0.700 0
Progressive pseudorheumatoid dysplasia
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
27 0.925 0.040 6 112064998 splice donor variant G/A snv 0.700 0