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.
Klein's Syndrome
CUI: C0079661
Disease: Klein's Syndrome
5 0.925 0.040 2 222297048 missense variant G/A snv 0.800 1.000 3 1993 2003
Waardenburg Syndrome Type 1
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
46 0.925 0.040 2 222297048 missense variant G/A snv 0.700 0