SNP Detail For rs882300
1.Mapping Information
Human SNP ID rs882300
Human chromosome chr2
Human SNP position 136218685
Pig chromosome chr15
Pig SNP position 18045657
2.Annotation Information
PubMed ID17903306
JournalBMC Med Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/17903306
StudyGenome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study.
Disease/TraitElectrocardiographic traits
Initial sample1,951 European ancestry individuals from 355 families
Replication sampleNA
Region2q22.1
Chromosome idchr2
Chromosome position136218685
Reported geneintergenic
Mapped geneCXCR4 - UBBP1
Upstream gene id7852
Downstream gene id7315
SNP gene ids
Upstream gene distance100530
Downstream gene distance110615
SNP risk allelers882300-?
SNPsrs882300
Merged0
SNP id current882300
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.0000003
Pvalue mlog6.52287874528033
P value text(PR interval)
Or beta
%95 Ci
PlatformAffymetrix [70897]
CNVN
Mapped traitelectrocardiography, PR interval
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004327, http://www.ebi.ac.uk/efo/EFO_0004462
Study accessionGCST000111
PubMed ID19525953
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19525953
StudyMeta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
Disease/TraitMultiple sclerosis
Initial sample2,624 European ancestry cases, 7,220 European ancestry controls
Replication sample2,215 European ancestry cases, 2,116 European ancestry controls
Region2q22.1
Chromosome idchr2
Chromosome position136218685
Reported geneCXCR4
Mapped geneCXCR4 - UBBP1
Upstream gene id7852
Downstream gene id7315
SNP gene ids
Upstream gene distance100530
Downstream gene distance110615
SNP risk allelers882300-C
SNPsrs882300
Merged0
SNP id current882300
Contextintergenic_variant
Intergenic1
Allele frequency0.61
P value0.0000001
Pvalue mlog7
P value text
Or beta1.19
%95 Ci[1.09-1.30]
PlatformAffymetrix, Illumina [~ 2560000] (imputed)
CNVN
Mapped traitmultiple sclerosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003885
Study accessionGCST000424