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 21, MULTIPLE TYPES
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
5 0.851 0.200 16 79599008 missense variant G/T snv 0.700 0
Microcornea
CUI: C0266544
Disease: Microcornea
10 0.851 0.200 16 79599008 missense variant G/T snv 0.020 1.000 2 2007 2014
Cataract, Pulverulent
CUI: C1833118
Disease: Cataract, Pulverulent
4 0.851 0.200 16 79599008 missense variant G/T snv 0.010 1.000 1 2014 2014
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.851 0.200 16 79599008 missense variant G/T snv 0.010 1.000 1 2014 2014