SNP Detail For rs13538
1.Mapping Information
Human SNP ID rs13538
Human chromosome chr2
Human SNP position 73641201
Pig chromosome chr3
Pig SNP position 72453213
2.Annotation Information
PubMed ID20383146
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20383146
StudyNew loci associated with kidney function and chronic kidney disease.
Disease/TraitChronic kidney disease
Initial sampleUp to 67,093 European ancestry individuals
Replication sampleUp to 22,982 European ancestry individuals
Region2p13.1
Chromosome idchr2
Chromosome position73641201
Reported geneNAT8, NAT8B, ALMS1
Mapped geneNAT8
Upstream gene id
Downstream gene id
SNP gene ids9027
Upstream gene distance
Downstream gene distance
SNP risk allelers13538-G
SNPsrs13538
Merged0
SNP id current13538
Contextmissense_variant
Intergenic0
Allele frequency0.23
P value0.00000000000005
Pvalue mlog13.3010299956639
P value text(eGFRcrea)
Or beta0.01
%95 Ci[0.005-0.013] ml/min/1.73 m2 increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitchronic kidney disease, serum creatinine measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003884, http://www.ebi.ac.uk/efo/EFO_0004518
Study accessionGCST000649
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite ratios
Initial sampleUp to 5,591 European ancestry individuals
Replication sampleUp to 1,767 European ancestry individuals
Region2p13.1
Chromosome idchr2
Chromosome position73641201
Reported geneNAT8
Mapped geneNAT8
Upstream gene id
Downstream gene id
SNP gene ids9027
Upstream gene distance
Downstream gene distance
SNP risk allelers13538-A
SNPsrs13538
Merged0
SNP id current13538
Contextmissense_variant
Intergenic0
Allele frequency0.78
P value5E-498
Pvalue mlog497.301029995663
P value text(N-acetylornithine/myo-inositol)
Or beta0.223
%95 Ci[0.21-0.23] unit increase
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002442
PubMed ID23934736
JournalGenet Epidemiol
Linkwww.ncbi.nlm.nih.gov/pubmed/23934736
StudyGenome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
Disease/TraitMetabolite levels (X-11787)
Initial sample1,260 African American individuals
Replication sampleNA
Region2p13.1
Chromosome idchr2
Chromosome position73641201
Reported geneNAT8
Mapped geneNAT8
Upstream gene id
Downstream gene id
SNP gene ids9027
Upstream gene distance
Downstream gene distance
SNP risk allelers13538-A
SNPsrs13538
Merged0
SNP id current13538
Contextmissense_variant
Intergenic0
Allele frequency
P value2E-23
Pvalue mlog22.698970004336
P value text
Or beta0.09
%95 Ci[0.07-0.10] unit increase
PlatformAffymetrix [~ 2500000] (imputed)
CNVN
Mapped traithydroxy-leucine measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005276
Study accessionGCST002119
PubMed ID24625756
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24625756
StudyGenetic determinants influencing human serum metabolome among African Americans.
Disease/TraitSerum metabolite levels
Initial sample1,260 African American individuals
Replication sampleNA
Region2p13.1
Chromosome idchr2
Chromosome position73641201
Reported geneNAT8
Mapped geneNAT8
Upstream gene id
Downstream gene id
SNP gene ids9027
Upstream gene distance
Downstream gene distance
SNP risk allelers13538-A
SNPsrs13538
Merged0
SNP id current13538
Contextmissense_variant
Intergenic0
Allele frequency0.48
P value4E-66
Pvalue mlog65.397940008672
P value text(N-acetylornithine)
Or beta0.3
%95 Ci[NR] unit increase
PlatformAffymetrix [2341704] (imputed)
CNVN
Mapped traitserum metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005653
Study accessionGCST002388
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region2p13.1
Chromosome idchr2
Chromosome position73641201
Reported geneNAT8
Mapped geneNAT8
Upstream gene id
Downstream gene id
SNP gene ids9027
Upstream gene distance
Downstream gene distance
SNP risk allelers13538-A
SNPsrs13538
Merged0
SNP id current13538
Contextmissense_variant
Intergenic0
Allele frequency0.78
P value8E-157
Pvalue mlog156.096910013008
P value text(X-12510--2-aminooctanoic acid)
Or beta0.119
%95 Ci[0.11-0.13] unit increase
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443