Human SNP ID | rs4814176 |
---|---|
Human chromosome | chr20 |
Human SNP position | 12978750 |
Pig chromosome | chr17 |
Pig SNP position | 24311103 |
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 | 20p12.1 |
Chromosome id | chr20 |
Chromosome position | 12978750 |
Reported gene | SPTLC3 |
Mapped gene | LOC101929486 - SPTLC3 |
Upstream gene id | 101929486 |
Downstream gene id | 55304 |
SNP gene ids | |
Upstream gene distance | 26231 |
Downstream gene distance | 30229 |
SNP risk allele | rs4814176-T |
SNPs | rs4814176 |
Merged | 0 |
SNP id current | 4814176 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.39 |
P value | 0.00000000000000003 |
Pvalue mlog | 16.5228787452803 |
P value text | (X-08402) |
Or beta | 0.022 |
%95 Ci | [0.016-0.028] 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 ratios |
Initial sample | Up to 5,591 European ancestry individuals |
Replication sample | Up to 1,767 European ancestry individuals |
Region | 20p12.1 |
Chromosome id | chr20 |
Chromosome position | 12978750 |
Reported gene | SPTLC3 |
Mapped gene | LOC101929486 - SPTLC3 |
Upstream gene id | 101929486 |
Downstream gene id | 55304 |
SNP gene ids | |
Upstream gene distance | 26231 |
Downstream gene distance | 30229 |
SNP risk allele | rs4814176-T |
SNPs | rs4814176 |
Merged | 0 |
SNP id current | 4814176 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.4 |
P value | 7E-33 |
Pvalue mlog | 32.1549019599857 |
P value text | (X-10510/palmitoyl sphingomyelin) |
Or beta | 0.021 |
%95 Ci | [0.017-0.025] 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 | 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 | Sphingolipid levels |
Initial sample | up to 7,478 European ancestry individuals |
Replication sample | 1,182 European ancestry individuals |
Region | 20p12.1 |
Chromosome id | chr20 |
Chromosome position | 12978750 |
Reported gene | SPTLC3 |
Mapped gene | LOC101929486 - SPTLC3 |
Upstream gene id | 101929486 |
Downstream gene id | 55304 |
SNP gene ids | |
Upstream gene distance | 26231 |
Downstream gene distance | 30229 |
SNP risk allele | rs4814176-T |
SNPs | rs4814176 |
Merged | 0 |
SNP id current | 4814176 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.3758 |
P value | 0.0000000000004 |
Pvalue mlog | 12.397940008672 |
P value text | (Hydroxysphingomyeline C16:1) |
Or beta | 0.0369 |
%95 Ci | [0.027-0.047] unit increase |
Platform | Affymetrix, Illumina [up to 296619] (imputed) |
CNV | N |
Mapped trait | sphingolipid measurement, blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004622, http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002964 |
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 | Sphingolipid levels |
Initial sample | up to 7,478 European ancestry individuals |
Replication sample | 1,182 European ancestry individuals |
Region | 20p12.1 |
Chromosome id | chr20 |
Chromosome position | 12978750 |
Reported gene | SPTLC3 |
Mapped gene | LOC101929486 - SPTLC3 |
Upstream gene id | 101929486 |
Downstream gene id | 55304 |
SNP gene ids | |
Upstream gene distance | 26231 |
Downstream gene distance | 30229 |
SNP risk allele | rs4814176-T |
SNPs | rs4814176 |
Merged | 0 |
SNP id current | 4814176 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.3752 |
P value | 2E-32 |
Pvalue mlog | 31.698970004336 |
P value text | (Hydroxysphingomyeline C24:1) |
Or beta | 0.062 |
%95 Ci | [0.052-0.072] unit increase |
Platform | Affymetrix, Illumina [up to 296619] (imputed) |
CNV | N |
Mapped trait | sphingolipid measurement, blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004622, http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002964 |