rs1555902640, OFD1

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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.925 0.200 X 13746360 stop gained -/A delins 0.700 0
Orofaciodigital Syndrome I
CUI: C1510460
Disease: Orofaciodigital Syndrome I
108 0.925 0.200 X 13746360 stop gained -/A delins 0.700 0