Disease: Brachydactyly type C ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140047318
rs140047318
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
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