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.
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0