rs121434419, BMPR1B

N. diseases: 2
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
0.810 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
BRACHYDACTYLY, TYPE A2
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
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
BRACHYDACTYLY, TYPE A2
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
0.810 GeneticVariation UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231 2003
BRACHYDACTYLY, TYPE A2
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
0.810 CausalMutation CLINVAR
Brachydactyly type C
CUI: C1862103
Disease: Brachydactyly type C
0.010 GeneticVariation BEFREE A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. 16957682 2006