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 208128343 missense variant C/A;T snv 0.800 1.000 7 1999 2012
Embryonal nuclear cataract (disorder)
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
1 0.851 0.200 2 208128343 missense variant C/A;T snv 0.020 1.000 2 2012 2015
Cataract
CUI: C0086543
Disease: Cataract
124 0.851 0.200 2 208128343 missense variant C/A;T snv 0.010 1.000 1 2012 2012
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.851 0.200 2 208128343 missense variant C/A;T snv 0.010 1.000 1 2015 2015