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 0.851 0.200 2 208128257 stop gained C/G;T snv 0.700 0
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.851 0.200 2 208128257 stop gained C/G;T snv 0.010 1.000 1 2012 2012
Cataract
CUI: C0086543
Disease: Cataract
124 0.851 0.200 2 208128257 stop gained C/G;T snv 0.010 1.000 1 2012 2012
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.851 0.200 2 208128257 stop gained C/G;T snv 0.010 1.000 1 2012 2012