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.
Orofaciodigital Syndromes
CUI: C0029294
Disease: Orofaciodigital Syndromes
1 0.882 0.080 17 8174573 inframe deletion AAG/- delins 2.0E-05 2.1E-05 0.700 1.000 2 2014 2016
JOUBERT SYNDROME 29
CUI: C4539715
Disease: JOUBERT SYNDROME 29
1 0.882 0.080 17 8174573 inframe deletion AAG/- delins 2.0E-05 2.1E-05 0.700 0
OROFACIODIGITAL SYNDROME XVI
CUI: C4539729
Disease: OROFACIODIGITAL SYNDROME XVI
2 0.882 0.080 17 8174573 inframe deletion AAG/- delins 2.0E-05 2.1E-05 0.700 0