Human SNP ID | rs13538 |
---|---|
Human chromosome | chr2 |
Human SNP position | 73641201 |
Pig chromosome | chr3 |
Pig SNP position | 72453213 |
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 | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73641201 |
Reported gene | NAT8, NAT8B, ALMS1 |
Mapped gene | NAT8 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 9027 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs13538-G |
SNPs | rs13538 |
Merged | 0 |
SNP id current | 13538 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.23 |
P value | 0.00000000000005 |
Pvalue mlog | 13.3010299956639 |
P value text | (eGFRcrea) |
Or beta | 0.01 |
%95 Ci | [0.005-0.013] ml/min/1.73 m2 increase |
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 | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite ratios |
Initial sample | Up to 5,591 European ancestry individuals |
Replication sample | Up to 1,767 European ancestry individuals |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73641201 |
Reported gene | NAT8 |
Mapped gene | NAT8 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 9027 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs13538-A |
SNPs | rs13538 |
Merged | 0 |
SNP id current | 13538 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.78 |
P value | 5E-498 |
Pvalue mlog | 497.301029995663 |
P value text | (N-acetylornithine/myo-inositol) |
Or beta | 0.223 |
%95 Ci | [0.21-0.23] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002442 |
PubMed ID | 23934736 |
Journal | Genet Epidemiol |
Link | www.ncbi.nlm.nih.gov/pubmed/23934736 |
Study | Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. |
Disease/Trait | Metabolite levels (X-11787) |
Initial sample | 1,260 African American individuals |
Replication sample | NA |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73641201 |
Reported gene | NAT8 |
Mapped gene | NAT8 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 9027 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs13538-A |
SNPs | rs13538 |
Merged | 0 |
SNP id current | 13538 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | |
P value | 2E-23 |
Pvalue mlog | 22.698970004336 |
P value text | |
Or beta | 0.09 |
%95 Ci | [0.07-0.10] unit increase |
Platform | Affymetrix [~ 2500000] (imputed) |
CNV | N |
Mapped trait | hydroxy-leucine measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005276 |
Study accession | GCST002119 |
PubMed ID | 24625756 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24625756 |
Study | Genetic determinants influencing human serum metabolome among African Americans. |
Disease/Trait | Serum metabolite levels |
Initial sample | 1,260 African American individuals |
Replication sample | NA |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73641201 |
Reported gene | NAT8 |
Mapped gene | NAT8 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 9027 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs13538-A |
SNPs | rs13538 |
Merged | 0 |
SNP id current | 13538 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.48 |
P value | 4E-66 |
Pvalue mlog | 65.397940008672 |
P value text | (N-acetylornithine) |
Or beta | 0.3 |
%95 Ci | [NR] unit increase |
Platform | Affymetrix [2341704] (imputed) |
CNV | N |
Mapped trait | serum metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005653 |
Study accession | GCST002388 |
PubMed ID | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite levels |
Initial sample | 7,824 European ancestry individuals |
Replication sample | NA |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73641201 |
Reported gene | NAT8 |
Mapped gene | NAT8 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 9027 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs13538-A |
SNPs | rs13538 |
Merged | 0 |
SNP id current | 13538 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.78 |
P value | 8E-157 |
Pvalue mlog | 156.096910013008 |
P value text | (X-12510--2-aminooctanoic acid) |
Or beta | 0.119 |
%95 Ci | [0.11-0.13] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002443 |