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.
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.882 0.200 21 43169160 missense variant C/A;T snv 4.0E-06 0.720 1.000 3 2013 2018
CATARACT, AUTOSOMAL DOMINANT
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
10 0.882 0.200 21 43169160 missense variant C/A;T snv 4.0E-06 0.700 0
Microcornea
CUI: C0266544
Disease: Microcornea
10 0.882 0.200 21 43169160 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2013 2013