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.
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
Prominent ear helix
CUI: C4024165
Disease: Prominent ear helix
3 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
VERHEIJ SYNDROME
CUI: C3810023
Disease: VERHEIJ SYNDROME
11 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0