Human SNP ID | rs2657879 |
---|---|
Human chromosome | chr12 |
Human SNP position | 56471554 |
Pig chromosome | chr5 |
Pig SNP position | 23352782 |
PubMed ID | 21886157 |
---|---|
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/21886157 |
Study | Human metabolic individuality in biomedical and pharmaceutical research. |
Disease/Trait | Metabolic traits |
Initial sample | 2,820 European ancestry individuals |
Replication sample | NA |
Region | 12q13.3 |
Chromosome id | chr12 |
Chromosome position | 56471554 |
Reported gene | GLS2 |
Mapped gene | GLS2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 27165 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2657879-G |
SNPs | rs2657879 |
Merged | 0 |
SNP id current | 2657879 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.187 |
P value | 0.00000000000000003 |
Pvalue mlog | 16.5228787452803 |
P value text | (glutamine + 7 other traits) |
Or beta | 0.035 |
%95 Ci | [NR] unit decrease |
Platform | Affymetrix, Illumina [534665] |
CNV | N |
Mapped trait | metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004725 |
Study accession | GCST001217 |
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 | 12q13.3 |
Chromosome id | chr12 |
Chromosome position | 56471554 |
Reported gene | GLS2 |
Mapped gene | GLS2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 27165 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2657879-A |
SNPs | rs2657879 |
Merged | 0 |
SNP id current | 2657879 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.83 |
P value | 6E-19 |
Pvalue mlog | 18.2218487496163 |
P value text | (gamma-glutamylglutamine) |
Or beta | 0.024 |
%95 Ci | [0.018-0.03] 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 |
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 | 12q13.3 |
Chromosome id | chr12 |
Chromosome position | 56471554 |
Reported gene | GLS2 |
Mapped gene | GLS2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 27165 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2657879-A |
SNPs | rs2657879 |
Merged | 0 |
SNP id current | 2657879 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.82 |
P value | 0.000000000000000006 |
Pvalue mlog | 17.2218487496163 |
P value text | (glutamine) |
Or beta | 0.015 |
%95 Ci | [0.011-0.019] 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 |
PubMed ID | 26068415 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/26068415 |
Study | Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels. |
Disease/Trait | Amino acid levels |
Initial sample | up to 7,478 European ancestry individuals |
Replication sample | 1,182 European ancestry individuals |
Region | 12q13.3 |
Chromosome id | chr12 |
Chromosome position | 56471554 |
Reported gene | GLS2 |
Mapped gene | GLS2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 27165 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2657879-A |
SNPs | rs2657879 |
Merged | 0 |
SNP id current | 2657879 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.8097 |
P value | 0.00000000000002 |
Pvalue mlog | 13.698970004336 |
P value text | (Glutamine) |
Or beta | 0.0342 |
%95 Ci | [0.025-0.043] unit increase |
Platform | Affymetrix, Illumina [at least 296619] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement, amino acid measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664, http://www.ebi.ac.uk/efo/EFO_0005134 |
Study accession | GCST002966 |