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.
CATARACT 2, MULTIPLE TYPES
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
6 0.925 0.200 2 208128226 missense variant G/A snv 1.6E-03 1.8E-04 0.700 1.000 7 1999 2012
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.925 0.200 2 208128226 missense variant G/A snv 1.6E-03 1.8E-04 0.010 1.000 1 2007 2007