Variant: rs149079426

present in Gene: TRIP11 present in Chromosome: 14 Position on Chromosome: 92021558 Alleles of this Variant: G/A;C

rs149079426 in TRIP11 gene and Spondylometaphyseal dysplasia with dentinogenesis imperfecta PMID 30728324 2019 Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.