Variant: rs1554200371

present in Gene: TENT5A present in Chromosome: 6 Position on Chromosome: 81750332 Alleles of this Variant: T/C

rs1554200371 in TENT5A gene and OSTEOGENESIS IMPERFECTA, TYPE XVIII PMID 29358272 2018 FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.