Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607149
rs267607149
TRPV4
0.800 GeneticVariation UNIPROT A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. 26249260

2015
dbSNP: rs267607149
rs267607149
TRPV4
0.800 GeneticVariation UNIPROT Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953

2012
dbSNP: rs267607149
rs267607149
TRPV4
0.800 GeneticVariation UNIPROT Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 20577006

2010
dbSNP: rs267607149
rs267607149
TRPV4
0.800 GeneticVariation UNIPROT Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. 20425821

2010
dbSNP: rs267607149
rs267607149
TRPV4
0.800 GeneticVariation UNIPROT Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 19232556

2009
dbSNP: rs267607149
rs267607149
TRPV4
T 0.800 CausalMutation CLINVAR