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 0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 0.700 0
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2009 2009
Cataract
CUI: C0086543
Disease: Cataract
124 0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2009 2009