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SNP Detail For rs174547
1.Mapping Information
| Human SNP ID | rs174547 |
|---|---|
| Human chromosome | chr11 |
| Human SNP position | 61803311 |
| Pig chromosome | chr2 |
| Pig SNP position | 9251724 |
2.Annotation Information
| PubMed ID | 21829377 |
|---|---|
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21829377 |
| Study | Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. |
| Disease/Trait | Phospholipid levels (plasma) |
| Initial sample | 8,866 European ancestry individuals |
| Replication sample | NA |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 3E-64 |
| Pvalue mlog | 63.5228787452803 |
| P value text | (ALA) |
| Or beta | 0.02 |
| %95 Ci | [NR] % decrease |
| Platform | Affymetrix, Illumina [NR] |
| CNV | N |
| Mapped trait | phospholipid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004639 |
| Study accession | GCST001180 |
| PubMed ID | 21829377 |
| Journal | PLoS Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21829377 |
| Study | Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. |
| Disease/Trait | Phospholipid levels (plasma) |
| Initial sample | 8,866 European ancestry individuals |
| Replication sample | NA |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 4E-154 |
| Pvalue mlog | 153.397940008672 |
| P value text | (DPA) |
| Or beta | 0.07 |
| %95 Ci | [NR] % increase |
| Platform | Affymetrix, Illumina [NR] |
| CNV | N |
| Mapped trait | phospholipid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004639 |
| Study accession | GCST001179 |
| PubMed ID | 19060906 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19060906 |
| Study | Common variants at 30 loci contribute to polygenic dyslipidemia. |
| Disease/Trait | HDL cholesterol |
| Initial sample | 19,840 European ancestry individuals |
| Replication sample | Up to 20,623 European ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-C |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.33 |
| P value | 0.000000000002 |
| Pvalue mlog | 11.698970004336 |
| P value text | |
| Or beta | 0.09 |
| %95 Ci | [0.05-0.13] s.d. decrease |
| Platform | Affymetrix, Illumina [~ 2600000] (imputed) |
| CNV | N |
| Mapped trait | high density lipoprotein cholesterol measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004612 |
| Study accession | GCST000290 |
| PubMed ID | 19060906 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19060906 |
| Study | Common variants at 30 loci contribute to polygenic dyslipidemia. |
| Disease/Trait | Triglycerides |
| Initial sample | 19,840 European ancestry individuals |
| Replication sample | Up to 20,623 European ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-C |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.33 |
| P value | 0.00000000000002 |
| Pvalue mlog | 13.698970004336 |
| P value text | |
| Or beta | 0.06 |
| %95 Ci | [0.02-0.10] s.d. increase |
| Platform | Affymetrix, Illumina [~ 2600000] (imputed) |
| CNV | N |
| Mapped trait | triglyceride measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004530 |
| Study accession | GCST000286 |
| PubMed ID | 20639392 |
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20639392 |
| Study | Genome-wide association analysis identifies multiple loci related to resting heart rate. |
| Disease/Trait | Resting heart rate |
| Initial sample | 38,991 European ancestry individuals |
| Replication sample | NA |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-C |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.33 |
| P value | 0.000000002 |
| Pvalue mlog | 8.69897000433601 |
| P value text | |
| Or beta | 6.2 |
| %95 Ci | [4.22-8.18] ms decrease |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | resting heart rate |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004351 |
| Study accession | GCST000731 |
| 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 | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-C |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.32 |
| P value | 9E-116 |
| Pvalue mlog | 115.04575749056 |
| P value text | (SM-3 + 152 other traits) |
| Or beta | 0.178 |
| %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 | 22286219 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/22286219 |
| Study | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. |
| Disease/Trait | Lipid metabolism phenotypes |
| Initial sample | 8,330 European ancestry individuals |
| Replication sample | NA |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-? |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 8E-262 |
| Pvalue mlog | 261.096910013008 |
| P value text | (LA/PUFA) |
| Or beta | 0.57 |
| %95 Ci | [0.53-0.61] unit increase |
| Platform | Illumina [~ 7700000] (imputed) |
| CNV | N |
| Mapped trait | lipid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004529 |
| Study accession | GCST001392 |
| PubMed ID | 20037589 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20037589 |
| Study | A genome-wide perspective of genetic variation in human metabolism. |
| Disease/Trait | Metabolite levels |
| Initial sample | 1,029 European ancestry individuals |
| Replication sample | 1,202 European ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-C |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.3 |
| P value | 7E-179 |
| Pvalue mlog | 178.154901959985 |
| P value text | (PC aa C36:3/PC aa C36:4) |
| Or beta | 36.3 |
| %95 Ci | [NR] % variance |
| Platform | Affymetrix [517480] |
| CNV | N |
| Mapped trait | metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004725 |
| Study accession | GCST000550 |
| PubMed ID | 22960237 |
| Journal | Bone |
| Link | www.ncbi.nlm.nih.gov/pubmed/22960237 |
| Study | Bivariate genome-wide association study suggests fatty acid desaturase genes and cadherin DCHS2 for variation of both compressive strength index and appendicular lean mass in males. |
| Disease/Trait | Comprehensive strength and appendicular lean mass |
| Initial sample | 825 Chinese ancestry female individuals, 802 Chinese ancestry male individuals |
| Replication sample | 1,059 European ancestry male individuals, 2,227 European ancestry female individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-C |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.33 |
| P value | 0.0000002 |
| Pvalue mlog | 6.69897000433601 |
| P value text | (Males + Females) |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix [701525] |
| CNV | N |
| Mapped trait | comprehensive strength index, muscle measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004979, http://www.ebi.ac.uk/efo/EFO_0004515 |
| Study accession | GCST001656 |
| PubMed ID | 24823311 |
| Journal | Circ Cardiovasc Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/24823311 |
| Study | Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. |
| Disease/Trait | Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) |
| Initial sample | 8,631 European ancestry individuals |
| Replication sample | NA |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FTH1, C11orf9, FADS1, DAGLA, FADS2, FEN1, C11orf10, FADS3, RAB3IL1, BEST1 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.674 |
| P value | 2E-72 |
| Pvalue mlog | 71.698970004336 |
| P value text | |
| Or beta | 0.02 |
| %95 Ci | [0.018-0.022] unit increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | omega-6 polyunsaturated fatty acid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005680 |
| Study accession | GCST002450 |
| PubMed ID | 24823311 |
| Journal | Circ Cardiovasc Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/24823311 |
| Study | Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. |
| Disease/Trait | Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) |
| Initial sample | 8,631 European ancestry individuals |
| Replication sample | NA |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FTH1, INCENP, FADS1, FADS2, SCGB2A1, SCGB1D1, SCGB2A2, RAB3IL1, AHNAK, C11orf9, DAGLA, FEN1, FADS3, SYT7, BEST1 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-C |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.33 |
| P value | 3E-971 |
| Pvalue mlog | 970.52287874528 |
| P value text | |
| Or beta | 1.69 |
| %95 Ci | [1.65-1.73] unit decrease |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | omega-6 polyunsaturated fatty acid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005680 |
| Study accession | GCST002449 |
| PubMed ID | 26584805 |
| Journal | Genes Nutr |
| Link | www.ncbi.nlm.nih.gov/pubmed/26584805 |
| Study | A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. |
| Disease/Trait | Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) |
| Initial sample | 717 Singaporean Chinese ancestry myocardial infarction cases, 644 Singaporean Chinese ancestry controls |
| Replication sample | NA |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | NR |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.3382 |
| P value | 0.0000000000000001 |
| Pvalue mlog | 16 |
| P value text | |
| Or beta | 0.048 |
| %95 Ci | [0.037-0.059] unit decrease |
| Platform | Illumina [up to 1980188] (imputed) |
| CNV | N |
| Mapped trait | linoleic acid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006807 |
| Study accession | GCST003239 |
| 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 | Glycerophospholipid levels |
| Initial sample | up to 7,478 European ancestry individuals |
| Replication sample | 1,182 European ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.678 |
| P value | 2E-175 |
| Pvalue mlog | 174.698970004336 |
| P value text | (lysoPhosphatidylcholine acyl C20:4) |
| Or beta | 0.1652 |
| %95 Ci | [0.15-0.18] unit increase |
| Platform | Affymetrix, Illumina [at least 296619] (imputed) |
| CNV | N |
| Mapped trait | glycerophospholipid measurement, blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007630, http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002965 |
| 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 | Glycerophospholipid levels |
| Initial sample | up to 7,478 European ancestry individuals |
| Replication sample | 1,182 European ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.6756 |
| P value | 2E-40 |
| Pvalue mlog | 39.698970004336 |
| P value text | (Phosphatidylcholine diacyl C34:4) |
| Or beta | 0.0884 |
| %95 Ci | [0.075-0.101] unit increase |
| Platform | Affymetrix, Illumina [at least 296619] (imputed) |
| CNV | N |
| Mapped trait | glycerophospholipid measurement, blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007630, http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002965 |
| 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 | Glycerophospholipid levels |
| Initial sample | up to 7,478 European ancestry individuals |
| Replication sample | 1,182 European ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.6803 |
| P value | 9E-141 |
| Pvalue mlog | 140.04575749056 |
| P value text | (Phosphatidylcholine diacyl C36:4) |
| Or beta | 0.1157 |
| %95 Ci | [0.11-0.12] unit increase |
| Platform | Affymetrix, Illumina [at least 296619] (imputed) |
| CNV | N |
| Mapped trait | glycerophospholipid measurement, blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007630, http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002965 |
| 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 | Glycerophospholipid levels |
| Initial sample | up to 7,478 European ancestry individuals |
| Replication sample | 1,182 European ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.6793 |
| P value | 9E-172 |
| Pvalue mlog | 171.04575749056 |
| P value text | (Phosphatidylcholine diacyl C38:4) |
| Or beta | 0.1408 |
| %95 Ci | [0.13-0.15] unit increase |
| Platform | Affymetrix, Illumina [at least 296619] (imputed) |
| CNV | N |
| Mapped trait | glycerophospholipid measurement, blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007630, http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002965 |
| 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 | Glycerophospholipid levels |
| Initial sample | up to 7,478 European ancestry individuals |
| Replication sample | 1,182 European ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.6775 |
| P value | 3E-42 |
| Pvalue mlog | 41.5228787452803 |
| P value text | (Phosphatidylcholine acyl-alkyl C36:4) |
| Or beta | 0.0663 |
| %95 Ci | [0.057-0.076] unit increase |
| Platform | Affymetrix, Illumina [at least 296619] (imputed) |
| CNV | N |
| Mapped trait | glycerophospholipid measurement, blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007630, http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002965 |
| 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 | Glycerophospholipid levels |
| Initial sample | up to 7,478 European ancestry individuals |
| Replication sample | 1,182 European ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.6783 |
| P value | 5E-84 |
| Pvalue mlog | 83.3010299956639 |
| P value text | (Phosphatidylcholine acyl-alkyl C36:5) |
| Or beta | 0.0992 |
| %95 Ci | [0.089-0.109] unit increase |
| Platform | Affymetrix, Illumina [at least 296619] (imputed) |
| CNV | N |
| Mapped trait | glycerophospholipid measurement, blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007630, http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002965 |
| 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 | Glycerophospholipid levels |
| Initial sample | up to 7,478 European ancestry individuals |
| Replication sample | 1,182 European ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.6792 |
| P value | 2E-70 |
| Pvalue mlog | 69.698970004336 |
| P value text | (Phosphatidylcholine acyl-alkyl C38:5) |
| Or beta | 0.0764 |
| %95 Ci | [0.068-0.085] unit increase |
| Platform | Affymetrix, Illumina [at least 296619] (imputed) |
| CNV | N |
| Mapped trait | glycerophospholipid measurement, blood metabolite measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007630, http://www.ebi.ac.uk/efo/EFO_0005664 |
| Study accession | GCST002965 |
| 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 | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.6798 |
| P value | 0.000000000005 |
| Pvalue mlog | 11.3010299956639 |
| P value text | (Sphingomyeline C16:1) |
| Or beta | 0.026 |
| %95 Ci | [0.019-0.033] 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 | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1, FADS2, FADS3 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.6782 |
| P value | 0.00000000006 |
| Pvalue mlog | 10.2218487496163 |
| P value text | (Sphingomyeline C18:1) |
| Or beta | 0.0295 |
| %95 Ci | [0.021-0.038] 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 | 25646338 |
| Journal | Am J Clin Nutr |
| Link | www.ncbi.nlm.nih.gov/pubmed/25646338 |
| Study | Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. |
| Disease/Trait | Trans fatty acid levels |
| Initial sample | 8,013 European ancestry individuals |
| Replication sample | 1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | NR |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.6702 |
| P value | 0.00000000000006 |
| Pvalue mlog | 13.2218487496163 |
| P value text | (Cis/trans-18:2, EA) |
| Or beta | 0.0032 |
| %95 Ci | [0.0024-0.004] unit decrease |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | cis/trans-18:2 fatty acid measurement, trans fatty acid measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006824, http://www.ebi.ac.uk/efo/EFO_0006821 |
| Study accession | GCST002721 |
| PubMed ID | 25429064 |
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/25429064 |
| Study | Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. |
| Disease/Trait | Height |
| Initial sample | 36,227 East Asian ancestry individuals |
| Replication sample | 57,699 East Asian ancestry individuals |
| Region | 11q12.2 |
| Chromosome id | chr11 |
| Chromosome position | 61803311 |
| Reported gene | FADS1 |
| Mapped gene | FADS1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3992 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs174547-T |
| SNPs | rs174547 |
| Merged | 0 |
| SNP id current | 174547 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.62 |
| P value | 0.000000000000000006 |
| Pvalue mlog | 17.2218487496163 |
| P value text | |
| Or beta | 0.037 |
| %95 Ci | [0.025-0.049] unit increase |
| Platform | Affymetrix, Illumina [2704730] (imputed) |
| CNV | N |
| Mapped trait | body height |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
| Study accession | GCST002702 |
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