SNP Detail For rs12708716
1.Mapping Information
Human SNP ID rs12708716
Human chromosome chr16
Human SNP position 11086016
Pig chromosome JH118627-1
Pig SNP position 64297
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)
Region16p13.13
Chromosome idchr16
Chromosome position11086016
Reported geneKIAA0350
Mapped geneCLEC16A
Upstream gene id
Downstream gene id
SNP gene ids23274
Upstream gene distance
Downstream gene distance
SNP risk allelers12708716-A
SNPsrs12708716
Merged0
SNP id current12708716
Contextintron_variant
Intergenic0
Allele frequency0.65
P value0.0000005
Pvalue mlog6.30102999566398
P value text
Or beta1.19
%95 Ci[0.97-1.45]
PlatformAffymetrix [469557]
CNVN
Mapped traittype I diabetes mellitus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001359
Study accessionGCST000043
PubMed ID17554260
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/17554260
StudyRobust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Disease/TraitType 1 diabetes
Initial sample2,000 European ancestry cases, 3,000 European ancestry controls
Replication sample2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls
Region16p13.13
Chromosome idchr16
Chromosome position11086016
Reported geneKIAA0350
Mapped geneCLEC16A
Upstream gene id
Downstream gene id
SNP gene ids23274
Upstream gene distance
Downstream gene distance
SNP risk allelers12708716-A
SNPsrs12708716
Merged0
SNP id current12708716
Contextintron_variant
Intergenic0
Allele frequency0.68
P value0.000000000000000003
Pvalue mlog17.5228787452803
P value text
Or beta1.23
%95 Ci[1.16-1.30]
PlatformAffymetrix [NR]
CNVN
Mapped traittype I diabetes mellitus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001359
Study accessionGCST000038
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
Region16p13.13
Chromosome idchr16
Chromosome position11086016
Reported geneCLEC16A
Mapped geneCLEC16A
Upstream gene id
Downstream gene id
SNP gene ids23274
Upstream gene distance
Downstream gene distance
SNP risk allelers12708716-G
SNPsrs12708716
Merged0
SNP id current12708716
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.0000000000007
Pvalue mlog12.1549019599857
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 ID21829393
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21829393
StudyGenome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Disease/TraitType 1 diabetes autoantibodies
Initial sample12,501 European ancestry cases
Replication sample3,598 sibling cases
Region16p13.13
Chromosome idchr16
Chromosome position11086016
Reported geneCLEC16A
Mapped geneCLEC16A
Upstream gene id
Downstream gene id
SNP gene ids23274
Upstream gene distance
Downstream gene distance
SNP risk allelers12708716-G
SNPsrs12708716
Merged0
SNP id current12708716
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000000000005
Pvalue mlog13.3010299956639
P value text(T1D)
Or beta1.2
%95 Ci[NR]
PlatformAffymetrix, Illumina [NR]
CNVN
Mapped traittype I diabetes mellitus, autoantibody measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001359, http://www.ebi.ac.uk/efo/EFO_0004866
Study accessionGCST001191
PubMed ID19430480
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19430480
StudyGenome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
Disease/TraitType 1 diabetes
Initial sample7,514 cases, 9,045 controls
Replication sample4,267 cases, 4,670 controls, 4,342 trios from 2,319 families
Region16p13.13
Chromosome idchr16
Chromosome position11086016
Reported geneCLEC16A
Mapped geneCLEC16A
Upstream gene id
Downstream gene id
SNP gene ids23274
Upstream gene distance
Downstream gene distance
SNP risk allelers12708716-?
SNPsrs12708716
Merged0
SNP id current12708716
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.0000000000000002
Pvalue mlog15.698970004336
P value text
Or beta
%95 Ci
PlatformAffymetrix, Illumina [841622] (imputed)
CNVN
Mapped traittype I diabetes mellitus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001359
Study accessionGCST000392