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SNP Detail For rs12917707
1.Mapping Information
| Human SNP ID | rs12917707 |
|---|---|
| Human chromosome | chr16 |
| Human SNP position | 20356368 |
| Pig chromosome | chr3 |
| Pig SNP position | 26208513 |
2.Annotation Information
| PubMed ID | 19430482 |
|---|---|
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19430482 |
| Study | Multiple loci associated with indices of renal function and chronic kidney disease. |
| Disease/Trait | Renal function and chronic kidney disease |
| Initial sample | 2,388 European ancestry cases, 17,489 European ancestry controls |
| Replication sample | 1,932 cases, 19,534 controls |
| Region | 16p12.3 |
| Chromosome id | chr16 |
| Chromosome position | 20356368 |
| Reported gene | UMOD |
| Mapped gene | UMOD - PDILT |
| Upstream gene id | 7369 |
| Downstream gene id | 204474 |
| SNP gene ids | |
| Upstream gene distance | 67 |
| Downstream gene distance | 2802 |
| SNP risk allele | rs12917707-G |
| SNPs | rs12917707 |
| Merged | 0 |
| SNP id current | 12917707 |
| Context | upstream_gene_variant |
| Intergenic | 1 |
| Allele frequency | 0.82 |
| P value | 0.000000000002 |
| Pvalue mlog | 11.698970004336 |
| P value text | (CKD) |
| Or beta | 1.25 |
| %95 Ci | [1.18-1.33] |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | chronic kidney disease |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003884 |
| Study accession | GCST000397 |
| PubMed ID | 19430482 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19430482 |
| Study | Multiple loci associated with indices of renal function and chronic kidney disease. |
| Disease/Trait | Renal function and chronic kidney disease |
| Initial sample | 2,388 European ancestry cases, 17,489 European ancestry controls |
| Replication sample | 1,932 cases, 19,534 controls |
| Region | 16p12.3 |
| Chromosome id | chr16 |
| Chromosome position | 20356368 |
| Reported gene | UMOD |
| Mapped gene | UMOD - PDILT |
| Upstream gene id | 7369 |
| Downstream gene id | 204474 |
| SNP gene ids | |
| Upstream gene distance | 67 |
| Downstream gene distance | 2802 |
| SNP risk allele | rs12917707-T |
| SNPs | rs12917707 |
| Merged | 0 |
| SNP id current | 12917707 |
| Context | upstream_gene_variant |
| Intergenic | 1 |
| Allele frequency | 0.18 |
| P value | 0.0000000000000005 |
| Pvalue mlog | 15.3010299956639 |
| P value text | (eGFRcrea) |
| Or beta | 0.02 |
| %95 Ci | [0.014-0.022] ml/min/1.73m2 increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | renal system measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004742 |
| Study accession | GCST000397 |
| PubMed ID | 20383146 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20383146 |
| Study | New loci associated with kidney function and chronic kidney disease. |
| Disease/Trait | Chronic kidney disease |
| Initial sample | Up to 67,093 European ancestry individuals |
| Replication sample | Up to 22,982 European ancestry individuals |
| Region | 16p12.3 |
| Chromosome id | chr16 |
| Chromosome position | 20356368 |
| Reported gene | UMOD, ACSM5, GP2, PDILT |
| Mapped gene | UMOD - PDILT |
| Upstream gene id | 7369 |
| Downstream gene id | 204474 |
| SNP gene ids | |
| Upstream gene distance | 67 |
| Downstream gene distance | 2802 |
| SNP risk allele | rs12917707-T |
| SNPs | rs12917707 |
| Merged | 0 |
| SNP id current | 12917707 |
| Context | upstream_gene_variant |
| Intergenic | 1 |
| Allele frequency | 0.18 |
| P value | 1E-20 |
| Pvalue mlog | 20 |
| P value text | (eGFRcrea) |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | chronic kidney disease, serum creatinine measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003884, http://www.ebi.ac.uk/efo/EFO_0004518 |
| Study accession | GCST000649 |
| PubMed ID | 24578125 |
| Journal | J Am Soc Nephrol |
| Link | www.ncbi.nlm.nih.gov/pubmed/24578125 |
| Study | Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. |
| Disease/Trait | Urinary uromodulin levels |
| Initial sample | 10,884 European ancestry individuals |
| Replication sample | NA |
| Region | 16p12.3 |
| Chromosome id | chr16 |
| Chromosome position | 20356368 |
| Reported gene | UMOD |
| Mapped gene | UMOD - PDILT |
| Upstream gene id | 7369 |
| Downstream gene id | 204474 |
| SNP gene ids | |
| Upstream gene distance | 67 |
| Downstream gene distance | 2802 |
| SNP risk allele | rs12917707-T |
| SNPs | rs12917707 |
| Merged | 0 |
| SNP id current | 12917707 |
| Context | upstream_gene_variant |
| Intergenic | 1 |
| Allele frequency | 0.18 |
| P value | 8E-73 |
| Pvalue mlog | 72.096910013008 |
| P value text | |
| Or beta | 0.32 |
| %95 Ci | [0.28-0.36] unit decrease |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | urinary uromodulin measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005663 |
| Study accession | GCST002376 |
| PubMed ID | 25493955 |
| Journal | Kidney Int |
| Link | www.ncbi.nlm.nih.gov/pubmed/25493955 |
| Study | Genome-wide association study of kidney function decline in individuals of European descent. |
| Disease/Trait | Kidney function decline traits |
| Initial sample | up to 45,530 European ancestry individuals |
| Replication sample | up to 18,028 European ancestry individuals |
| Region | 16p12.3 |
| Chromosome id | chr16 |
| Chromosome position | 20356368 |
| Reported gene | UMOD, PDILT |
| Mapped gene | UMOD - PDILT |
| Upstream gene id | 7369 |
| Downstream gene id | 204474 |
| SNP gene ids | |
| Upstream gene distance | 67 |
| Downstream gene distance | 2802 |
| SNP risk allele | rs12917707-T |
| SNPs | rs12917707 |
| Merged | 0 |
| SNP id current | 12917707 |
| Context | upstream_gene_variant |
| Intergenic | 1 |
| Allele frequency | 0.18 |
| P value | 0.0000000000008 |
| Pvalue mlog | 12.096910013008 |
| P value text | (eGFRchange noCKD) |
| Or beta | 0.15 |
| %95 Ci | [0.11-0.19] unit decrease |
| Platform | Affymetrix, Illumina [2500000] (imputed) |
| CNV | N |
| Mapped trait | GFR change measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006829 |
| Study accession | GCST002720 |
| PubMed ID | 25493955 |
| Journal | Kidney Int |
| Link | www.ncbi.nlm.nih.gov/pubmed/25493955 |
| Study | Genome-wide association study of kidney function decline in individuals of European descent. |
| Disease/Trait | Kidney function decline traits |
| Initial sample | up to 45,530 European ancestry individuals |
| Replication sample | up to 18,028 European ancestry individuals |
| Region | 16p12.3 |
| Chromosome id | chr16 |
| Chromosome position | 20356368 |
| Reported gene | PDILT, UMOD |
| Mapped gene | UMOD - PDILT |
| Upstream gene id | 7369 |
| Downstream gene id | 204474 |
| SNP gene ids | |
| Upstream gene distance | 67 |
| Downstream gene distance | 2802 |
| SNP risk allele | rs12917707-T |
| SNPs | rs12917707 |
| Merged | 0 |
| SNP id current | 12917707 |
| Context | upstream_gene_variant |
| Intergenic | 1 |
| Allele frequency | 0.18 |
| P value | 0.00000009 |
| Pvalue mlog | 7.04575749056067 |
| P value text | (CKDi) |
| Or beta | 0.2 |
| %95 Ci | [0.12-0.28] unit decrease |
| Platform | Affymetrix, Illumina [2500000] (imputed) |
| CNV | N |
| Mapped trait | chronic kidney disease |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003884 |
| Study accession | GCST002720 |
| PubMed ID | 25493955 |
| Journal | Kidney Int |
| Link | www.ncbi.nlm.nih.gov/pubmed/25493955 |
| Study | Genome-wide association study of kidney function decline in individuals of European descent. |
| Disease/Trait | Kidney function decline traits |
| Initial sample | up to 45,530 European ancestry individuals |
| Replication sample | up to 18,028 European ancestry individuals |
| Region | 16p12.3 |
| Chromosome id | chr16 |
| Chromosome position | 20356368 |
| Reported gene | UMOD, PDILT |
| Mapped gene | UMOD - PDILT |
| Upstream gene id | 7369 |
| Downstream gene id | 204474 |
| SNP gene ids | |
| Upstream gene distance | 67 |
| Downstream gene distance | 2802 |
| SNP risk allele | rs12917707-T |
| SNPs | rs12917707 |
| Merged | 0 |
| SNP id current | 12917707 |
| Context | upstream_gene_variant |
| Intergenic | 1 |
| Allele frequency | 0.18 |
| P value | 0.000004 |
| Pvalue mlog | 5.39794000867203 |
| P value text | (CKDi25) |
| Or beta | 0.22 |
| %95 Ci | [0.12-0.32] unit decrease |
| Platform | Affymetrix, Illumina [2500000] (imputed) |
| CNV | N |
| Mapped trait | chronic kidney disease |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003884 |
| Study accession | GCST002720 |
| PubMed ID | 25493955 |
| Journal | Kidney Int |
| Link | www.ncbi.nlm.nih.gov/pubmed/25493955 |
| Study | Genome-wide association study of kidney function decline in individuals of European descent. |
| Disease/Trait | Kidney function decline traits |
| Initial sample | up to 45,530 European ancestry individuals |
| Replication sample | up to 18,028 European ancestry individuals |
| Region | 16p12.3 |
| Chromosome id | chr16 |
| Chromosome position | 20356368 |
| Reported gene | UMOD, PDILT |
| Mapped gene | UMOD - PDILT |
| Upstream gene id | 7369 |
| Downstream gene id | 204474 |
| SNP gene ids | |
| Upstream gene distance | 67 |
| Downstream gene distance | 2802 |
| SNP risk allele | rs12917707-T |
| SNPs | rs12917707 |
| Merged | 0 |
| SNP id current | 12917707 |
| Context | upstream_gene_variant |
| Intergenic | 1 |
| Allele frequency | 0.18 |
| P value | 0.00000000000000002 |
| Pvalue mlog | 16.698970004336 |
| P value text | (eGFRchange overall) |
| Or beta | 0.14 |
| %95 Ci | [NR] unit decrease |
| Platform | Affymetrix, Illumina [2500000] (imputed) |
| CNV | N |
| Mapped trait | GFR change measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006829 |
| Study accession | GCST002720 |
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