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 0.925 0.160 3 181712581 missense variant G/C;T snv 0.800 1.000 2 2003 2014
Esophageal Atresia
CUI: C0014850
Disease: Esophageal Atresia
6 0.925 0.160 3 181712581 missense variant G/C;T snv 0.010 1.000 1 2006 2006