Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151340624
rs151340624
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
CUI: C0392525
Disease:
Nephrolithiasis
0.010 GeneticVariation BEFREE The R704X mutation is identical to that found in X-linked recessive nephrolithiasis, but there was no renal failure in our patient. 9893114 1999