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 Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. 20503319

2010
dbSNP: rs77975504
rs77975504
TRPV4
T 0.800 CausalMutation CLINVAR

dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR