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SNP Detail For rs7570971
1.Mapping Information
| Human SNP ID | rs7570971 |
|---|---|
| Human chromosome | chr2 |
| Human SNP position | 135080336 |
| Pig chromosome | chr15 |
| Pig SNP position | 19301718 |
2.Annotation Information
| PubMed ID | 20686565 |
|---|---|
| Journal | Nature |
| Link | www.ncbi.nlm.nih.gov/pubmed/20686565 |
| Study | Biological, clinical and population relevance of 95 loci for blood lipids. |
| Disease/Trait | Cholesterol, total |
| Initial sample | 100,184 European ancestry individuals |
| Replication sample | NA |
| Region | 2q21.3 |
| Chromosome id | chr2 |
| Chromosome position | 135080336 |
| Reported gene | RAB3GAP1 |
| Mapped gene | RAB3GAP1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 22930 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs7570971-T |
| SNPs | rs7570971 |
| Merged | 0 |
| SNP id current | 7570971 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.31 |
| P value | 0.00000001 |
| Pvalue mlog | 8 |
| P value text | |
| Or beta | 1.18 |
| %95 Ci | [0.75-1.61] mg/dL increase |
| Platform | Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) |
| CNV | N |
| Mapped trait | total cholesterol measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004574 |
| Study accession | GCST000760 |
| 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 | 2q21.3 |
| Chromosome id | chr2 |
| Chromosome position | 135080336 |
| Reported gene | RAB3GAP1 |
| Mapped gene | RAB3GAP1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 22930 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs7570971-A |
| SNPs | rs7570971 |
| Merged | 0 |
| SNP id current | 7570971 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.33 |
| P value | 8E-45 |
| Pvalue mlog | 44.096910013008 |
| P value text | (1,5-anhydroglucitol (1,5-AG)) |
| Or beta | 0.037 |
| %95 Ci | [0.031-0.043] unit decrease |
| 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 | 24097068 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/24097068 |
| Study | Discovery and refinement of loci associated with lipid levels. |
| Disease/Trait | Cholesterol, total |
| Initial sample | 94,595 European ancestry individuals |
| Replication sample | 93,982 European ancestry individuals |
| Region | 2q21.3 |
| Chromosome id | chr2 |
| Chromosome position | 135080336 |
| Reported gene | RAB3GAP1 |
| Mapped gene | RAB3GAP1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 22930 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs7570971-A |
| SNPs | rs7570971 |
| Merged | 0 |
| SNP id current | 7570971 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.35 |
| P value | 0.0000000000001 |
| Pvalue mlog | 13 |
| P value text | |
| Or beta | 0.03 |
| %95 Ci | [NR] unit increase |
| Platform | NR [NR] (imputed) |
| CNV | N |
| Mapped trait | total cholesterol measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004574 |
| Study accession | GCST002221 |
| PubMed ID | 25673413 |
| Journal | Nature |
| Link | www.ncbi.nlm.nih.gov/pubmed/25673413 |
| Study | Genetic studies of body mass index yield new insights for obesity biology. |
| Disease/Trait | Body mass index |
| Initial sample | up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals |
| Replication sample | up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 |
| Region | 2q21.3 |
| Chromosome id | chr2 |
| Chromosome position | 135080336 |
| Reported gene | RAB3GAP1 |
| Mapped gene | RAB3GAP1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 22930 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs7570971-C |
| SNPs | rs7570971 |
| Merged | 0 |
| SNP id current | 7570971 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.64 |
| P value | 0.000002 |
| Pvalue mlog | 5.69897000433601 |
| P value text | (EA) |
| Or beta | 0.017 |
| %95 Ci | [0.0098-0.0232] kg/m2 increase |
| Platform | Affymetrix, Illumina [2550021] |
| CNV | N |
| Mapped trait | body mass index |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004340 |
| Study accession | GCST002783 |
| PubMed ID | 25673413 |
| Journal | Nature |
| Link | www.ncbi.nlm.nih.gov/pubmed/25673413 |
| Study | Genetic studies of body mass index yield new insights for obesity biology. |
| Disease/Trait | Body mass index |
| Initial sample | up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals |
| Replication sample | up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 |
| Region | 2q21.3 |
| Chromosome id | chr2 |
| Chromosome position | 135080336 |
| Reported gene | RAB3GAP1 |
| Mapped gene | RAB3GAP1 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 22930 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs7570971-C |
| SNPs | rs7570971 |
| Merged | 0 |
| SNP id current | 7570971 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.627 |
| P value | 0.000001 |
| Pvalue mlog | 6 |
| P value text | |
| Or beta | 0.016 |
| %95 Ci | [0.0099-0.0229] kg/m2 increase |
| Platform | Affymetrix, Illumina [2550021] |
| CNV | N |
| Mapped trait | body mass index |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004340 |
| Study accession | GCST002783 |
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