Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434417
rs121434417
BMPR1B
0.800 GeneticVariation UNIPROT A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. 16957682

2006
dbSNP: rs121434417
rs121434417
BMPR1B
0.800 GeneticVariation UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231

2003
dbSNP: rs121434417
rs121434417
BMPR1B
A 0.800 CausalMutation CLINVAR