rs1555564126, EFTUD2

N. diseases: 9
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.
Abnormality of the outer ear
CUI: C1846460
Disease: Abnormality of the outer ear
8 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
CUI: C1864652
Disease: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
18 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
Preauricular skin tag
CUI: C1860816
Disease: Preauricular skin tag
4 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0