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.
Ocular albinism, type I
CUI: C0342684
Disease: Ocular albinism, type I
24 0.925 0.160 X 9741349 missense variant A/C snv 0.700 1.000 12 1995 2008
Albinism
CUI: C0001916
Disease: Albinism
27 0.925 0.160 X 9741349 missense variant A/C snv 0.700 1.000 1 1995 1995