rs28937580, NOG

N. diseases: 4
Disease: BRACHYDACTYLY, TYPE B1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BRACHYDACTYLY, TYPE B1
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
0.010 GeneticVariation BEFREE Interestingly, we found that the mutation P35S described in this family has already been reported in patients affected with SYM1 as well as with BDB syndromes. 18440889 2008