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rs794729651

From SNPedia

ClinVar
Risk rs794729651(T;T)
Alt rs794729651(T;T)
Reference rs794729651(;)
Significance Pathogenic
Disease Growth and mental retardation
Variation info
Gene EFTUD2
CLNDBN Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Reversed 1
HGVS NC_000017.10:g.42953407dupA
CLNSRC
CLNACC RCV000185561.2,