SNP Detail For rs9272346
1.Mapping Information
Human SNP ID rs9272346
Human chromosome chr6
Human SNP position 32636595
Pig chromosome chr7
Pig SNP position 29164498
2.Annotation Information
PubMed ID17554300
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/17554300
StudyGenome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
Disease/TraitType 1 diabetes
Initial sample1,963 European ancestry cases, 2,938 European ancestry controls
Replication sample(see Todd 2007)
Region6p21.32
Chromosome idchr6
Chromosome position32636595
Reported geneMHC
Mapped geneHLA-DRB1 - HLA-DQA1
Upstream gene id3123
Downstream gene id3117
SNP gene ids
Upstream gene distance46759
Downstream gene distance801
SNP risk allelers9272346-G
SNPsrs9272346
Merged0
SNP id current9272346
Contextintron_variant
Intergenic1
Allele frequency0.61
P value5E-134
Pvalue mlog133.301029995663
P value text
Or beta5.49
%95 Ci[4.83-6.24]
PlatformAffymetrix [469557]
CNVN
Mapped traittype I diabetes mellitus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001359
Study accessionGCST000043
PubMed ID18978792
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18978792
StudyMeta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
Disease/TraitType 1 diabetes
Initial sample3,561 European ancestry cases, 4,646 European ancestry controls
Replication sample6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families
Region6p21.32
Chromosome idchr6
Chromosome position32636595
Reported geneHLA
Mapped geneHLA-DRB1 - HLA-DQA1
Upstream gene id3123
Downstream gene id3117
SNP gene ids
Upstream gene distance46759
Downstream gene distance801
SNP risk allelers9272346-G
SNPsrs9272346
Merged0
SNP id current9272346
Contextintron_variant
Intergenic1
Allele frequencyNR
P value6E-129
Pvalue mlog128.221848749616
P value text
Or beta
%95 Ci
PlatformAffymetrix [up to 335565]
CNVN
Mapped traittype I diabetes mellitus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001359
Study accessionGCST000258
PubMed ID23181788
JournalClin Exp Allergy
Linkwww.ncbi.nlm.nih.gov/pubmed/23181788
StudyHLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.
Disease/TraitAsthma
Initial sampleUp to 1,238 European ancestry cases, up to 2,617 European ancestry controls
Replication sampleUp to 1,837 European ancestry cases, up to 3,803 European ancestry controls, up to 2,806 cases, up to 2,150 controls, up to 603 Costa Rican ancestry cases and their parents
Region6p21.32
Chromosome idchr6
Chromosome position32636595
Reported geneHLA-DQA1
Mapped geneHLA-DRB1 - HLA-DQA1
Upstream gene id3123
Downstream gene id3117
SNP gene ids
Upstream gene distance46759
Downstream gene distance801
SNP risk allelers9272346-?
SNPsrs9272346
Merged0
SNP id current9272346
Contextintron_variant
Intergenic1
Allele frequencyNR
P value0.00000002
Pvalue mlog7.69897000433601
P value text(Adult)
Or beta
%95 Ci
PlatformAffymetrix [455089]
CNVN
Mapped traitasthma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000270
Study accessionGCST001763