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.
Coloboma of iris
CUI: C0240063
Disease: Coloboma of iris
12 0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 0.700 0