Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs515726160
rs515726160
TRPV4
0.700 GeneticVariation UNIPROT Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953

2012
dbSNP: rs515726160
rs515726160
TRPV4
0.700 GeneticVariation UNIPROT Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 20577006

2010
dbSNP: rs515726160
rs515726160
TRPV4
0.700 GeneticVariation UNIPROT Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 19232556

2009