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rs12917707

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs12917707(G;T)
Make rs12917707(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position20356368
is asnp
is mentioned by
dbSNPrs12917707
ebirs12917707
HLIrs12917707
Exacrs12917707
Varsomers12917707
Maprs12917707
PheGenIrs12917707
hapmaprs12917707
1000 genomesrs12917707
hgdprs12917707
ensemblrs12917707
gopubmedrs12917707
geneviewrs12917707
scholarrs12917707
googlers12917707
pharmgkbrs12917707
gwascentralrs12917707
openSNPrs12917707
23andMers12917707
23andMe allrs12917707
SNP Nexus

SNPshotrs12917707
SNPdbers12917707
MSV3drs12917707
GWAS Ctlgrs12917707
GMAF0.1001
Max Magnitude0
? (G;G) (G;T) (T;T) 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 G
P-val 2E-12
Odds Ratio 1.25 [1.18-1.33]
GWAS snp
PMID [PMID 20383146OA-icon.png]
Trait Chronic kidney disease
Title New loci associated with kidney function and chronic kidney disease
Risk Allele T
P-val 1E-20
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
rs12917707
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.101562
summary



[PMID 24578125OA-icon.png] Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis


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


[PMID 25163389OA-icon.png] UMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort


[PMID 26040415] Next generation sequencing search for uromodulin gene variants related with impaired renal function