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.
Anophthalmos
CUI: C0003119
Disease: Anophthalmos
6 0.851 0.200 3 181712745 frameshift variant GG/- del 0.700 0
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.851 0.200 3 181712745 frameshift variant GG/- del 0.700 0
Microphthalmia, Syndromic 3
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
19 0.851 0.200 3 181712745 frameshift variant GG/- del 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.851 0.200 3 181712745 frameshift variant GG/- del 0.700 0
Secondary hypothyroidism
CUI: C3665349
Disease: Secondary hypothyroidism
2 0.851 0.200 3 181712745 frameshift variant GG/- del 0.700 0