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 89284924 missense variant G/A snv 4.0E-05 1.1E-04 0.800 1.000 20 1990 2014
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
45 0.925 0.160 11 89284924 missense variant G/A snv 4.0E-05 1.1E-04 0.700 1.000 2 2003 2008