Variant: rs121908894

present in Gene: FLNB present in Chromosome: 3 Position on Chromosome: 58077271 Alleles of this Variant: C/T

rs121908894 in FLNB gene and Atelosteogenesis, type 1 PMID 14991055 2004 Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.