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.
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 0.010 1.000 1 2008 2008
Cataract
CUI: C0086543
Disease: Cataract
124 0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 0.010 1.000 1 2008 2008
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 0.010 1.000 1 2011 2011
Coralliform cataract
CUI: C1392104
Disease: Coralliform cataract
3 0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 0.010 1.000 1 2008 2008