Table 1 Summary of evidence for a gene associated with kidney function

Gene symbol^a	Kidney disease risk	ExWAS^b	Gene burden^b	Tissue/cell type expression^c	Known GWAS locus^d	Mouse with kidney phenotype
ACSM2A	down		X	PT	rs77924615	No
ALDOB	down	x	x	PT		no
ARHGEF16	down		x	EP; PE		yes
CCNP	down	x			rs59343080	no
CGNL1	up	x		EP; DVR	rs12148280	no
CLDN10^#	up	x	x	EP	rs7326821	yes
CLPX	up	x	x	LOH		no
CUBN^#	down	x		PT		yes
EPB41L5	up	x		POD		no
ERBB4	up	x		EP; CT	rs1851285	no
FNIP1	up	x	x			yes
GATA5	down	x		GE		yes
G6PC1^#	down		x	PT		no
HNF4A^#	up		x	PT	rs736820	yes
LCN8	up	x				no
LRP2^#	down	x	x	PT	rs16823029	yes
MITF	up	x	x	LOH; CT	rs60551165	no
NFAT5	down	x		PC	rs113441031	yes
NPHS1^#	down	x		POD	rs3814995	yes
NRG4	up		x	EP; PE	rs10851885	no
PKD2^#	up	x		EP		yes
PKHD1^#	down	x	x	EP; PC	rs12212034	yes
RBM47	up	x			rs166775	no
RNF186	up	x		PT		no
SLC12A1^#	up		x	EP; LOH		yes
SLC22A2	up	x	x	PT	rs3119304	no
SLC34A1^#	up		x	PT	rs10866705	yes
SLC34A3^#	up	x	x	PT	rs28490558	yes
SLC5A3	up	x	x	EP	rs2834320	no
SLC6A19^#	down	x	x	PT		yes
SLC7A9^#	down	x		PT	rs8101667	yes
VPS9D1	down	x		DVR	rs154656	no

Genes associated with more than one kidney function measure (eGFRcreat, eGFRcys, urea) and direction-consistent association with CKD from ExWAS and gene-based tests are listed.
^a“#” indicates that a monogenic kidney disease associated with this gene is reported in OMIM.
^b“x” indicates the presence in a single variant ExWAS or association test that groups alleles in a gene (gene-level burden test).
^cKidney cell type in which the gene is specifically expressed. PT proximal tubule, LOH loop of Henle, DVR descending vasa recta endothelium, EP epithelial progenitor, PC principal cell, PE pelvic epithelium, POD podocyte, GE glomerular endothelium, CT connecting tubule.
^ddbSNP ids of variants of known eGFR GWAS loci based on Stancick et al.²⁸ within ±100 kb of the variant position or gene start/end.

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