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.
Microphthalmia, Syndromic 3
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
19 0.882 0.160 3 181712650 missense variant T/C snv 0.700 0
Anophthalmos
CUI: C0003119
Disease: Anophthalmos
6 0.882 0.160 3 181712650 missense variant T/C snv 0.010 1.000 1 2016 2016
Sclerocornea
CUI: C1853235
Disease: Sclerocornea
3 0.882 0.160 3 181712650 missense variant T/C snv 0.010 1.000 1 2016 2016