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.
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 0.925 0.160 11 89227823 missense variant G/A;T snv 1.2E-05; 8.0E-06 0.700 1.000 1 2005 2005
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
24 0.925 0.160 11 89227823 missense variant G/A;T snv 1.2E-05; 8.0E-06 0.700 0
Oculocutaneous albinism type 1A
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
101 0.925 0.160 11 89227823 missense variant G/A;T snv 1.2E-05; 8.0E-06 0.700 0