rs74315384, EDN3

N. diseases: 1
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.
Waardenburg Syndrome, Type 4b
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
9 1.000 0.080 20 59321127 missense variant G/T snv 0.800 1.000 3 1996 2002