Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757494578
rs757494578
TRPV5
0.020 GeneticVariation BEFREE The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5. 28847730

2017
dbSNP: rs757494578
rs757494578
TRPV5
0.020 GeneticVariation BEFREE Focusing our analysis on coding sequence variants in 63 genes with preferential kidney expression we identify two rare missense variants SLC34A1 p.Tyr489Cys (OR=2.38, P=2.8 × 10(-5)) and TRPV5 p.Leu530Arg (OR=3.62, P=4.1 × 10(-5)) associating with recurrent kidney stones. 26272126

2015