Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568731526
rs1568731526
GDF5 ; GDF5-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1568731526
rs1568731526
GDF5 ; GDF5-AS1
G 0.700 GeneticVariation CLINVAR Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family. 12900894

2003
dbSNP: rs74315387
rs74315387
GDF5 ; GDF5-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs74315387
rs74315387
GDF5 ; GDF5-AS1
0.800 GeneticVariation UNIPROT Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. 9288098

1997
dbSNP: rs863225041
rs863225041
BMPR1B
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