Variant: rs121434417 

    present in Gene: BMPR1B
    present in Chromosome: 4
    Position on Chromosome: 95129875
    Alleles of this Variant: T/A

rs121434417 in BMPR1B gene and BRACHYDACTYLY, TYPE A2 PMID 16957682 2006 A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

PMID 14523231 2003 Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.