rs724159985, CDH3

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.
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.925 0.160 16 68679936 frameshift variant G/- delins 0.700 1.000 1 2003 2003
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
CUI: C1857041
Disease: Ectodermal dysplasia, ectrodactyly, and macular dystrophy
3 0.925 0.160 16 68679936 frameshift variant G/- delins 0.700 0