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.
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 0.700 0
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 0.700 0
Sparse hair
CUI: C1837770
Disease: Sparse hair
9 1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 0.700 0