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 4, MULTIPLE TYPES
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.800 1.000 11 1999 2011
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.720 1.000 3 2016 2017
Cataract
CUI: C0086543
Disease: Cataract
124 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.060 1.000 6 2005 2019
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2016 2016
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT
2 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2007 2007
Coralliform cataract
CUI: C1392104
Disease: Coralliform cataract
3 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2013 2013