Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77975504
rs77975504
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: rs77975504
rs77975504
TRPV4
0.800 GeneticVariation UNIPROT In SMDK, a recurrent R594H mutation was identified in 12 subjects and seven novel mutations. 20577006

2010
dbSNP: rs77975504
rs77975504
TRPV4
0.800 GeneticVariation UNIPROT Mutation analysis in six out of six patients with SMDK demonstrated heterozygosity for missense mutations in TRPV4, and one mutation, predicting a R594H substitution, was recurrent in four patients. 19232556

2009
dbSNP: rs77975504
rs77975504
TRPV4
T 0.800 CausalMutation CLINVAR