Have questions? Visit https://www.reddit.com/r/SNPedia

rs17319721

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome4
Position76447694
GeneSHROOM3
is asnp
is mentioned by
dbSNPrs17319721
ebirs17319721
HLIrs17319721
Exacrs17319721
Varsomers17319721
Maprs17319721
PheGenIrs17319721
hapmaprs17319721
1000 genomesrs17319721
hgdprs17319721
ensemblrs17319721
gopubmedrs17319721
geneviewrs17319721
scholarrs17319721
googlers17319721
pharmgkbrs17319721
gwascentralrs17319721
openSNPrs17319721
23andMers17319721
23andMe allrs17319721
SNP Nexus

SNPshotrs17319721
SNPdbers17319721
MSV3drs17319721
GWAS Ctlgrs17319721
GMAF0.2764
Max Magnitude1.5

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 19430482OA-icon.png]
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 20383146OA-icon.png]
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 20222955OA-icon.png] A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.


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


GET Evidence
rs17319721
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.328125
summary



[PMID 22492995OA-icon.png] Validated SNPs for eGFR and their associations with albuminuria.


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