Table 3. Summary information for coding sequence variants in genes with specific or enriched expression in the kidney associating with kidney stone.
| Position (Hg18) | A | MAF (%) | Gene | HGVSp |
Kidney stones |
Recurrent kidney stones |
Mechanism | ||
|---|---|---|---|---|---|---|---|---|---|
| P* | OR | P* | OR | ||||||
| chr5:176757439 | G/A | 0.46 | SLC34A1 | NP_003043.3:p.Tyr489Cys | 8.5 × 10−5 | 1.82 | 2.8 × 10−5 | 2.38 | Na/Pi co-transporter |
| chr7:142319969 | C/A | 0.13 | TRPV5 | NP_062815.2:p.Leu530Arg | 2.3 × 10−3 | 2.17 | 4.1 × 10−5 | 3.62 | Ca channel |
OR, odds ratio
*Genes with specific or enriched kidney expression: N=63. Coding variants with a MAF>0.01% within these genes: N=220, significance threshold for the number of test performed: 0.05/220=2.3 × 10−4.