rs12917707
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common on affy axiom data |
| Make rs12917707(G;T) |
| Make rs12917707(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 20356368 |
| Gene | UMOD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12917707 |
| dbSNP (classic) | rs12917707 |
| ClinGen | rs12917707 |
| ebi | rs12917707 |
| HLI | rs12917707 |
| Exac | rs12917707 |
| Gnomad | rs12917707 |
| Varsome | rs12917707 |
| LitVar | rs12917707 |
| Map | rs12917707 |
| PheGenI | rs12917707 |
| Biobank | rs12917707 |
| 1000 genomes | rs12917707 |
| hgdp | rs12917707 |
| ensembl | rs12917707 |
| geneview | rs12917707 |
| scholar | rs12917707 |
| rs12917707 | |
| pharmgkb | rs12917707 |
| gwascentral | rs12917707 |
| openSNP | rs12917707 |
| 23andMe | rs12917707 |
| SNPshot | rs12917707 |
| SNPdbe | rs12917707 |
| MSV3d | rs12917707 |
| GWAS Ctlg | rs12917707 |
| GMAF | 0.1001 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 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 | G |
| P-val | 2E-12 |
| Odds Ratio | 1.25 [1.18-1.33] |
| GWAS snp | |
|---|---|
| PMID | [PMID 20383146]
|
| 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 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 24578125] Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis
[PMID 23586973] Investigation of known estimated glomerular filtration rate loci in patients with Type 2 diabetes.
[PMID 25163389] 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
[PMID 28598953] Uromodulin associates with cardiorenal function in patients with hypertension and cardiovascular disease.
[PMID 32011449] Non-diabetic end-stage renal disease in Saudis associated with polymorphism of MYH9 gene but not UMOD gene.
