rs769540174, 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.
Flattened epiphysis
CUI: C1857527
Disease: Flattened epiphysis
3 1.000 0.080 10 72007559 frameshift variant G/-;GG delins 0.700 0
Limited hip extension
CUI: C3553368
Disease: Limited hip extension
2 1.000 0.080 10 72007559 frameshift variant G/-;GG delins 0.700 0
Short metacarpal
CUI: C1837084
Disease: Short metacarpal
7 1.000 0.080 10 72007559 frameshift variant G/-;GG delins 0.700 0
Spondyloepiphyseal dysplasia, Omani type
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
16 1.000 0.080 10 72007559 frameshift variant G/-;GG delins 0.700 0