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 0.851 0.360 2 135164629 stop gained T/G snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.851 0.360 2 135164629 stop gained T/G snv 0.700 0
Microcornea
CUI: C0266544
Disease: Microcornea
10 0.851 0.360 2 135164629 stop gained T/G snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.851 0.360 2 135164629 stop gained T/G snv 0.700 0
Warburg Sjo Fledelius syndrome
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
22 0.851 0.360 2 135164629 stop gained T/G snv 0.700 0