Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434418
rs121434418
BMPR1B
0.810 GeneticVariation UNIPROT Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682

2006
dbSNP: rs121434418
rs121434418
BMPR1B
0.810 GeneticVariation BEFREE Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682

2006
dbSNP: rs121434418
rs121434418
BMPR1B
0.810 GeneticVariation UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231

2003
dbSNP: rs121434418
rs121434418
BMPR1B
T 0.810 CausalMutation CLINVAR