Table 2 High confidence SNVs driving eGFR associations and putative causal genes through which their effects on kidney function are mediated
Locus | SNV | p-valuea | π | Gene | Supporting evidence |
|---|---|---|---|---|---|
ANXA9 | rs267738 | 1.7 × 10−10 | 55.3% | CERS2 | Encodes p.Gku115Ala (possibly damaging, deleterious)b. |
CACNA1S | rs3850625 | 2.5 × 10−9 | 99.0% | CACNA1S | Encodes p.Arg1539Cys (possibly damaging, deleterious)b. |
GCKR | rs1260326 | 2.0 × 10−35 | 86.1% | GCKR | Encodes p.Leu446Pro (possibly damaging, tolerated)b. |
C2orf73 | rs10181201 | 7.4 × 10−8 | 60.9% | SPTBN1 | Intronic; differential expression across kidney cell types. |
LRP2 | rs35472707 | 1.1 × 10−6 | 64.3% | LRP2 | Intronic; differential expression across kidney cell types. |
rs60641214 | 5.6 × 10−8 | 64.9% | LRP2 | Intronic; differential expression across kidney cell types. | |
CPS1 | rs1047891 | 1.5 × 10−29 | 98.1% | CPS1 | Encodes p.Thr1406Asn (benign, tolerated)b. |
PRDM8-FGF5 | rs12509595 | 4.7 × 10−16 | 57.1% | FGF5 | Colocalises with lead eQTL SNV. |
RGS14-SLC34A1 | rs3812036 | 1.0 × 10−32 | 65.0% | SLC34A1 | Intronic; differential expression across kidney cell types. |
PIP5K1B | rs2039424 | 1.3 × 10−26 | 50.7% | PIP5K1B | Intronic; differential expression across kidney cell types. |
WDR37 | rs80282103 | 2.0 × 10−18 | 100.0% | LARP4B | Intronic; differential expression across kidney cell types. |
MPPED2 | rs7930738 | 4.7 × 10−7 | 51.5% | MPPED2 | Intronic; differential expression across kidney cell types. |
UMOD-PDILT | rs77924615 | 1.5 × 10−54 | 100.0% | UMOD | Lead eQTL SNV; differential expression across kidney cell types. |
GP2 | Lead eQTL SNV; differential expression across kidney cell types. | ||||
DPEP1 | rs2460449 | 4.2 × 10−9 | 97.8% | DPEP1 | Intronic; differential expression across kidney cell types. |
BCAS3 | rs9895611 | 8.9 × 10−28 | 100.0% | BCAS3 | Intronic; differential expression across kidney cell types. |
rs887258 | 2.7 × 0−13 | 62.2% | TBX2 | Colocalises with lead eQTL SNV. |
