SNP Detail For rs6733839
1.Mapping Information
Human SNP ID rs6733839
Human chromosome chr2
Human SNP position 127135234
Pig chromosome chr15
Pig SNP position 28992959
2.Annotation Information
PubMed ID24162737
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24162737
StudyMeta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer__s disease.
Disease/TraitAlzheimer__s disease (late onset)
Initial sample17,008 European ancestry cases, 37,154 European ancestry controls
Replication sample8,572 European ancestry cases, 11,312 European ancestry controls
Region2q14.3
Chromosome idchr2
Chromosome position127135234
Reported geneBIN1
Mapped geneLOC105373605
Upstream gene id
Downstream gene id
SNP gene ids105373605
Upstream gene distance
Downstream gene distance
SNP risk allelers6733839-T
SNPsrs6733839
Merged0
SNP id current6733839
Contextregulatory_region_variant
Intergenic0
Allele frequency0.409
P value7E-44
Pvalue mlog43.1549019599857
P value text
Or beta1.22
%95 Ci[1.18-1.25]
PlatformIllumina [7055881] (imputed)
CNVN
Mapped traitAlzheimers disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000249
Study accessionGCST002245
PubMed ID25778476
JournalMol Psychiatry
Linkwww.ncbi.nlm.nih.gov/pubmed/25778476
StudyA novel Alzheimer disease locus located near the gene encoding tau protein.
Disease/TraitAlzheimer__s disease in APOE e4+ carriers
Initial sample10,352 cases, 9,207 controls
Replication sample1,250 European ancestry cases, 536 European ancestry controls
Region2q14.3
Chromosome idchr2
Chromosome position127135234
Reported geneBIN1
Mapped geneLOC105373605
Upstream gene id
Downstream gene id
SNP gene ids105373605
Upstream gene distance
Downstream gene distance
SNP risk allelers6733839-T
SNPsrs6733839
Merged0
SNP id current6733839
Contextregulatory_region_variant
Intergenic0
Allele frequency0.41
P value0.000000001
Pvalue mlog9
P value text
Or beta1.2
%95 Ci[1.13-1.27]
PlatformNR [NR]
CNVN
Mapped traitAlzheimers disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000249
Study accessionGCST002813
PubMed ID25188341
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25188341
StudyGenome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer__s Disease and Related Dementias.
Disease/TraitDementia and core Alzheimer__s disease neuropathologic changes
Initial sampleup to 3,887 cases, up to 1,027 controls
Replication sampleNA
Region2q14.3
Chromosome idchr2
Chromosome position127135234
Reported geneBIN1
Mapped geneLOC105373605
Upstream gene id
Downstream gene id
SNP gene ids105373605
Upstream gene distance
Downstream gene distance
SNP risk allelers6733839-T
SNPsrs6733839
Merged0
SNP id current6733839
Contextregulatory_region_variant
Intergenic0
Allele frequency0.43
P value0.000003
Pvalue mlog5.52287874528033
P value text(Primary)
Or beta0.3288
%95 Ci[0.19-0.47] unit increase
PlatformAffymetrix, Illumina [NR] (imputed)
CNVN
Mapped traitdementia, Alzheimer__s disease neuropathologic change
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003862, http://www.ebi.ac.uk/efo/EFO_0006801
Study accessionGCST002593