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.
Oculocutaneous albinism type 1A
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
101 0.925 0.160 11 89178603 missense variant G/A;C;T snv 2.6E-04; 1.2E-05 0.800 0
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
45 0.925 0.160 11 89178603 missense variant G/A;C;T snv 2.6E-04; 1.2E-05 0.700 1.000 3 2005 2009