rs121908620, CHST3

N. diseases: 2
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.
Spondyloepiphyseal dysplasia, Omani type
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
16 0.925 0.080 10 72007888 missense variant T/C snv 0.710 1.000 1 2008 2008
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.925 0.080 10 72007888 missense variant T/C snv 0.010 1.000 1 2008 2008