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. 2021 Jan 6;63:103157. doi: 10.1016/j.ebiom.2020.103157

Table 1.

Significant findings for single trait genome-wide association of eGFR.

Chr:position (hg38) SNV/indel Coded allele/Other Minor allele Beta (SE)
(Coded allele)
p Gene Function
Freq Count
1:56,690,933 rs180996919 C/G 0.0004 19 −14.56 (2.2) 6.1 × 10−11 PRKAA2 Intronic
2:171,363,037 rs116951054 A/C 0.0009 41 9.10 (1.55) 4.5 × 10−9 METTL8 Intronic
15:45,355,229* rs2461702 G/A 0.49 23,170 −0.63 (0.10) 1.2 × 10−10 GATM Intergenic
17:39,466,919* rs71147340 C/CT 0.34 16,247 −0.57 (0.10) 3.3 × 10−9 CDK12 Intronic
19:3,799,817 rs539182790 G/GGT 0.0005 26 −9.69 (1.64) 3.4 × 10−9 MATK Intronic

SNV, single nucleotide variant. Significance threshold 5.0 × 10−9; betas are eGFR change in ml/min/1.73 m2 for each additional copy of the coded allele. Freq, frequency of coded allele.

Previously reported loci. Regulatory annotation for rs180996919 (DHS, H3K4me1 muscle) and rs116951054 (DHS, H3K4me1 kidney).