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.
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 1.000 0.040 22 37973727 stop gained G/C snv 0.700 0
hypopigmented skin patch
CUI: C1836735
Disease: hypopigmented skin patch
2 1.000 0.040 22 37973727 stop gained G/C snv 0.700 0
WAARDENBURG SYNDROME, TYPE IIE
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
5 1.000 0.040 22 37973727 stop gained G/C snv 0.700 0