SNP Detail For rs6025
1.Mapping Information
Human SNP ID rs6025
Human chromosome chr1
Human SNP position 169549811
Pig chromosome chr4
Pig SNP position 89071421
2.Annotation Information
PubMed ID22672568
JournalJ Thromb Haemost
Linkwww.ncbi.nlm.nih.gov/pubmed/22672568
StudyA genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
Disease/TraitVenous thromboembolism
Initial sample1,503 European and other ancestry cases, 1,459 European and other ancestry controls
Replication sample1,407 cases, 1,418 controls
Region1q24.2
Chromosome idchr1
Chromosome position169549811
Reported geneF5
Mapped geneF5
Upstream gene id
Downstream gene id
SNP gene ids2153
Upstream gene distance
Downstream gene distance
SNP risk allelers6025-T
SNPsrs6025
Merged0
SNP id current6025
Contextmissense_variant
Intergenic0
Allele frequency0.063
P value2E-22
Pvalue mlog21.698970004336
P value text
Or beta3.57
%95 Ci[2.76-4.60]
PlatformIllumina [~ 2500000] (imputed)
CNVN
Mapped traitvenous thromboembolism
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004286
Study accessionGCST001557
PubMed ID25772935
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25772935
StudyMeta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.
Disease/TraitVenous thromboembolism
Initial sample7,507 European ancestry cases, 52,632 European ancestry controls
Replication sample3,009 European ancestry cases, 2,586 European ancestry controls
Region1q24.2
Chromosome idchr1
Chromosome position169549811
Reported geneF5
Mapped geneF5
Upstream gene id
Downstream gene id
SNP gene ids2153
Upstream gene distance
Downstream gene distance
SNP risk allelers6025-T
SNPsrs6025
Merged0
SNP id current6025
Contextmissense_variant
Intergenic0
Allele frequency0.033
P value1E-96
Pvalue mlog96
P value text
Or beta3.25
%95 Ci[2.91-3.64]
PlatformAffymetrix, Illumina [6751884] (imputed)
CNVN
Mapped traitvenous thromboembolism
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004286
Study accessionGCST002808
PubMed ID26192919
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26192919
StudyAssociation analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Disease/TraitInflammatory bowel disease
Initial sample12,882 European ancestry cases, 21,770 European ancestry controls
Replication sample25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls
Region1q24.2
Chromosome idchr1
Chromosome position169549811
Reported geneSELP, SELE, SELL
Mapped geneF5
Upstream gene id
Downstream gene id
SNP gene ids2153
Upstream gene distance
Downstream gene distance
SNP risk allelers6025-G
SNPsrs6025
Merged0
SNP id current6025
Contextmissense_variant
Intergenic0
Allele frequency0.97
P value0.00000003
Pvalue mlog7.52287874528033
P value text(EA)
Or beta1.1942284
%95 Ci
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitinflammatory bowel disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003767
Study accessionGCST003043