Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0239234
Disease: Low set ears
Low set ears 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0452136
Disease: Conductive hearing loss, bilateral
Conductive hearing loss, bilateral 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0016202
Disease: Flatfoot
Flatfoot 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C1864652
Disease: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR