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 0.882 0.160 11 89178183 missense variant G/A snv 8.4E-05 5.6E-05 0.810 1.000 25 1990 2015
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
24 0.882 0.160 11 89178183 missense variant G/A snv 8.4E-05 5.6E-05 0.700 0
Albinism
CUI: C0001916
Disease: Albinism
27 0.882 0.160 11 89178183 missense variant G/A snv 8.4E-05 5.6E-05 0.010 1.000 1 2017 2017