Table 3 Summary information for coding sequence variants in genes with specific or enriched expression in the kidney associating with kidney stone.

From: Common and rare variants associated with kidney stones and biochemical traits

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

  1. OR, odds ratio
  2. *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.
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