rs1554643142, PUF60

N. diseases: 4
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 0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 0.700 0
Submucous cleft palate
CUI: C4551487
Disease: Submucous cleft palate
1 0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 0.700 0