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 IIE
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
5 0.925 0.240 22 37983381 missense variant C/G;T snv 0.700 1.000 3 1999 2011
Yemenite deaf-blind hypopigmentation syndrome
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
3 0.925 0.240 22 37983381 missense variant C/G;T snv 0.010 1.000 1 2006 2006