SNP Detail For rs2657879
1.Mapping Information
Human SNP ID rs2657879
Human chromosome chr12
Human SNP position 56471554
Pig chromosome chr5
Pig SNP position 23352782
2.Annotation Information
PubMed ID21886157
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/21886157
StudyHuman metabolic individuality in biomedical and pharmaceutical research.
Disease/TraitMetabolic traits
Initial sample2,820 European ancestry individuals
Replication sampleNA
Region12q13.3
Chromosome idchr12
Chromosome position56471554
Reported geneGLS2
Mapped geneGLS2
Upstream gene id
Downstream gene id
SNP gene ids27165
Upstream gene distance
Downstream gene distance
SNP risk allelers2657879-G
SNPsrs2657879
Merged0
SNP id current2657879
Contextmissense_variant
Intergenic0
Allele frequency0.187
P value0.00000000000000003
Pvalue mlog16.5228787452803
P value text(glutamine + 7 other traits)
Or beta0.035
%95 Ci[NR] unit decrease
PlatformAffymetrix, Illumina [534665]
CNVN
Mapped traitmetabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004725
Study accessionGCST001217
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
Region12q13.3
Chromosome idchr12
Chromosome position56471554
Reported geneGLS2
Mapped geneGLS2
Upstream gene id
Downstream gene id
SNP gene ids27165
Upstream gene distance
Downstream gene distance
SNP risk allelers2657879-A
SNPsrs2657879
Merged0
SNP id current2657879
Contextmissense_variant
Intergenic0
Allele frequency0.83
P value6E-19
Pvalue mlog18.2218487496163
P value text(gamma-glutamylglutamine)
Or beta0.024
%95 Ci[0.018-0.03] unit increase
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
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
Region12q13.3
Chromosome idchr12
Chromosome position56471554
Reported geneGLS2
Mapped geneGLS2
Upstream gene id
Downstream gene id
SNP gene ids27165
Upstream gene distance
Downstream gene distance
SNP risk allelers2657879-A
SNPsrs2657879
Merged0
SNP id current2657879
Contextmissense_variant
Intergenic0
Allele frequency0.82
P value0.000000000000000006
Pvalue mlog17.2218487496163
P value text(glutamine)
Or beta0.015
%95 Ci[0.011-0.019] unit increase
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
PubMed ID26068415
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/26068415
StudyGenome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.
Disease/TraitAmino acid levels
Initial sampleup to 7,478 European ancestry individuals
Replication sample1,182 European ancestry individuals
Region12q13.3
Chromosome idchr12
Chromosome position56471554
Reported geneGLS2
Mapped geneGLS2
Upstream gene id
Downstream gene id
SNP gene ids27165
Upstream gene distance
Downstream gene distance
SNP risk allelers2657879-A
SNPsrs2657879
Merged0
SNP id current2657879
Contextmissense_variant
Intergenic0
Allele frequency0.8097
P value0.00000000000002
Pvalue mlog13.698970004336
P value text(Glutamine)
Or beta0.0342
%95 Ci[0.025-0.043] unit increase
PlatformAffymetrix, Illumina [at least 296619] (imputed)
CNVN
Mapped traitblood metabolite measurement, amino acid measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664, http://www.ebi.ac.uk/efo/EFO_0005134
Study accessionGCST002966