rs863225041, BMPR1B

N. diseases: 2
Disease: Chondrodysplasia, Grebe type ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Chondrodysplasia, Grebe type
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
0.010 GeneticVariation BEFREE We show that the homozygous c.91C>T, p.(Arg31Cys) mutation causing du Pan dysplasia leads to a significant loss of BMPR1B function, but to a lesser extent than the previously reported p.Cys53Arg mutation that results in the more severe Grebe dysplasia. 26105076 2015