Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906678
rs387906678
0.800 GeneticVariation UNIPROT Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012

dbSNP: rs387906678
rs387906678
C 0.800 CausalMutation CLINVAR