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 89284797 missense variant G/A;T snv 4.0E-06; 3.6E-05 0.800 1.000 20 1990 2014
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
24 0.925 0.160 11 89284797 missense variant G/A;T snv 4.0E-06; 3.6E-05 0.700 1.000 4 1991 1999