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 ocular coloboma (disorder)
21 0.925 0.080 10 93593997 missense variant A/T snv 0.700 1.000 1 2017 2017
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.925 0.080 10 93593997 missense variant A/T snv 0.700 1.000 1 2017 2017