rs121434417, BMPR1B

N. diseases: 1
Disease: BRACHYDACTYLY, TYPE A2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BRACHYDACTYLY, TYPE A2
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
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
BRACHYDACTYLY, TYPE A2
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
0.800 GeneticVariation UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231 2003
BRACHYDACTYLY, TYPE A2
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
0.800 CausalMutation CLINVAR