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.
blue iris (physical finding)
CUI: C0578626
Disease: blue iris (physical finding)
2 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
Sensorineural Hearing Loss (disorder)
111 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
WAARDENBURG SYNDROME, TYPE 4A
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
11 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0