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SNP Detail For rs1378942
1.Mapping Information
| Human SNP ID | rs1378942 |
|---|---|
| Human chromosome | chr15 |
| Human SNP position | 74785026 |
| Pig chromosome | chr7 |
| Pig SNP position | 63441078 |
2.Annotation Information
| PubMed ID | 21909110 |
|---|---|
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21909110 |
| Study | Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. |
| Disease/Trait | Blood pressure |
| Initial sample | 74,064 European ancestry individuals |
| Replication sample | 48,607 European ancestry individuals |
| Region | 15q24.1 |
| Chromosome id | chr15 |
| Chromosome position | 74785026 |
| Reported gene | CSK |
| Mapped gene | CSK |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 1445 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1378942-C |
| SNPs | rs1378942 |
| Merged | 0 |
| SNP id current | 1378942 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.33 |
| P value | 0.000000000000002 |
| Pvalue mlog | 14.698970004336 |
| P value text | (Mean Arterial Pressure) |
| Or beta | 0.386 |
| %95 Ci | [0.29-0.48] mmHg increase |
| Platform | Affymetrix, Illumina, Perlegen [NR] (imputed) |
| CNV | N |
| Mapped trait | mean arterial pressure |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006340 |
| Study accession | GCST001236 |
| PubMed ID | 21909115 |
| Journal | Nature |
| Link | www.ncbi.nlm.nih.gov/pubmed/21909115 |
| Study | Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. |
| Disease/Trait | Diastolic blood pressure |
| Initial sample | 69,395 European ancestry individuals |
| Replication sample | Up to 133,361 European ancestry individuals |
| Region | 15q24.1 |
| Chromosome id | chr15 |
| Chromosome position | 74785026 |
| Reported gene | CYP1A1, ULK3 |
| Mapped gene | CSK |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 1445 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1378942-C |
| SNPs | rs1378942 |
| Merged | 0 |
| SNP id current | 1378942 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.35 |
| P value | 3E-26 |
| Pvalue mlog | 25.5228787452803 |
| P value text | |
| Or beta | 0.416 |
| %95 Ci | [NR] mmHg increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | diastolic blood pressure |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006336 |
| Study accession | GCST001228 |
| PubMed ID | 21909115 |
| Journal | Nature |
| Link | www.ncbi.nlm.nih.gov/pubmed/21909115 |
| Study | Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. |
| Disease/Trait | Systolic blood pressure |
| Initial sample | 69,395 European ancestry individuals |
| Replication sample | Up to 133,361 European ancestry individuals |
| Region | 15q24.1 |
| Chromosome id | chr15 |
| Chromosome position | 74785026 |
| Reported gene | CYP1A1, ULK3 |
| Mapped gene | CSK |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 1445 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1378942-C |
| SNPs | rs1378942 |
| Merged | 0 |
| SNP id current | 1378942 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.35 |
| P value | 6E-23 |
| Pvalue mlog | 22.2218487496163 |
| P value text | |
| Or beta | 0.613 |
| %95 Ci | [NR] mmHg increase |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | systolic blood pressure |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006335 |
| Study accession | GCST001227 |
| PubMed ID | 19430483 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/19430483 |
| Study | Genome-wide association study identifies eight loci associated with blood pressure. |
| Disease/Trait | Diastolic blood pressure |
| Initial sample | 34,433 European ancestry individuals |
| Replication sample | Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals |
| Region | 15q24.1 |
| Chromosome id | chr15 |
| Chromosome position | 74785026 |
| Reported gene | CYP1A1, CYP1A2, LMAN1L, CPLX3, CSK, ARID3B |
| Mapped gene | CSK |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 1445 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1378942-C |
| SNPs | rs1378942 |
| Merged | 0 |
| SNP id current | 1378942 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.36 |
| P value | 1E-23 |
| Pvalue mlog | 23 |
| P value text | |
| Or beta | 0.43 |
| %95 Ci | [0.35-0.51] mm Hg increase |
| Platform | Affymetrix, Illumina [2497993] (imputed) |
| CNV | N |
| Mapped trait | diastolic blood pressure |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006336 |
| Study accession | GCST000394 |
| PubMed ID | 26390057 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/26390057 |
| Study | Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. |
| Disease/Trait | Diastolic blood pressure |
| Initial sample | 31,516 East Asian ancestry individuals, 35,352 European ancestry individuals, 33,126 South Asian ancestry individuals |
| Replication sample | 87,205 individuals, 48,268 East Asian ancestry individuals, 68,456 European ancestry individuals, 16,328 South Asian ancestry individuals |
| Region | 15q24.1 |
| Chromosome id | chr15 |
| Chromosome position | 74785026 |
| Reported gene | CSK, CYP1A1, ULK3 |
| Mapped gene | CSK |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 1445 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1378942-A |
| SNPs | rs1378942 |
| Merged | 0 |
| SNP id current | 1378942 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.4112 |
| P value | 0.000005 |
| Pvalue mlog | 5.30102999566398 |
| P value text | |
| Or beta | 0.2756 |
| %95 Ci | [0.16-0.39] mmHg decrease |
| Platform | Affymetrix, Illumina, Perlegen [~ 2100000] (imputed) |
| CNV | N |
| Mapped trait | diastolic blood pressure |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006336 |
| Study accession | GCST003273 |
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and Xi'an University of Technology ©2014-2017 All Rights Reserved.
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