rs1555565774, EFTUD2

N. diseases: 16
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.
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Atresia of the external auditory canal
CUI: C1866190
Disease: Atresia of the external auditory canal
3 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Conductive hearing loss, bilateral
CUI: C0452136
Disease: Conductive hearing loss, bilateral
3 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Deep philtrum
CUI: C1839797
Disease: Deep philtrum
5 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Generalized hirsutism
CUI: C1849211
Disease: Generalized hirsutism
3 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.360 17 44862753 frameshift variant G/- 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 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Heterochromia iridis
CUI: C0423318
Disease: Heterochromia iridis
10 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Orbital separation diminished
CUI: C0424711
Disease: Orbital separation diminished
11 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0