rs121434419, BMPR1B

N. diseases: 2
Disease: Brachydactyly type C ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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