rs17319721

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	1.5	reported to have some negative associations with kidney function
(A;G)	1.5	reported to have some negative associations with kidney function
(G;G)	0	Common/Normal

Reference

GRCh38 38.1/141

Chromosome

4

Position

76447694

Gene

SHROOM3

is a	snp
is	mentioned by
dbSNP	rs17319721
dbSNP (classic)	rs17319721
ClinGen	rs17319721
ebi	rs17319721
HLI	rs17319721
Exac	rs17319721
Gnomad	rs17319721
Varsome	rs17319721
LitVar	rs17319721
Map	rs17319721
PheGenI	rs17319721
Biobank	rs17319721
1000 genomes	rs17319721
hgdp	rs17319721
ensembl	rs17319721
geneview	rs17319721
scholar	rs17319721
google	rs17319721
pharmgkb	rs17319721
gwascentral	rs17319721
openSNP	rs17319721
23andMe	rs17319721
SNPshot	rs17319721
SNPdbe	rs17319721
MSV3d	rs17319721
GWAS Ctlg	rs17319721

GMAF

0.2764

Max Magnitude

1.5

rs17319721 is a SNP located in an intron of the SHROOM3 gene on chromosome 4, apparently in the middle of a transcription factor 7–like 2–dependent (TCF7L2-dependent) enhancer element. The rs17319721(A) allele is associated with increased SHROOM3 transcription, and this increased expression may explain both the preliminary reports that this SNP is associated with increased risk for chronic kidney disease (CKD) and with increased odds of kidney transplant rejection, when the (A) allele is present in the donor (allograft) kidney.10.1172/JCI76902

?	(A;A) (A;G) (G;G)	28

GWAS snp
PMID	[PMID 19430482]
Trait	Renal function and chronic kidney disease
Title	Multiple loci associated with indices of renal function and chronic kidney disease
Risk Allele	A
P-val	1E-12
Odds Ratio	0.01 [0.008-0.016] ml/min/1.73m2 decrease

GWAS snp
PMID	[PMID 20383146]
Trait	Chronic kidney disease
Title	New loci associated with kidney function and chronic kidney disease
Risk Allele	A
P-val	1E-19
Odds Ratio	None None

[PMID 20222955] A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.

[PMID 20686651] Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.

[PMID 22492995] Validated SNPs for eGFR and their associations with albuminuria.

[PMID 23586973] Investigation of known estimated glomerular filtration rate loci in patients with Type 2 diabetes.