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.
Branchio-Oculo-Facial Syndrome
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
16 0.925 0.120 6 10402608 missense variant G/A snv 0.710 1.000 1 2012 2012
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.925 0.120 6 10402608 missense variant G/A snv 0.010 1.000 1 2012 2012