SNP Detail For rs4712523
1.Mapping Information
Human SNP ID rs4712523
Human chromosome chr6
Human SNP position 20657333
Pig chromosome chr7
Pig SNP position 16929293
2.Annotation Information
PubMed ID19401414
JournalDiabetes
Linkwww.ncbi.nlm.nih.gov/pubmed/19401414
StudyConfirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
Disease/TraitType 2 diabetes
Initial sample519 Japanese ancestry cases, 503 Japanese ancestry controls
Replication sample5,110 Japanese ancestry cases, 6,867 Japanese ancestry controls
Region6p22.3
Chromosome idchr6
Chromosome position20657333
Reported geneCDKAL1
Mapped geneCDKAL1
Upstream gene id
Downstream gene id
SNP gene ids54901
Upstream gene distance
Downstream gene distance
SNP risk allelers4712523-G
SNPsrs4712523
Merged0
SNP id current4712523
Contextintron_variant
Intergenic0
Allele frequency0.41
P value7E-20
Pvalue mlog19.1549019599857
P value text
Or beta1.27
%95 Ci[1.21-1.33]
PlatformIllumina [482625]
CNVN
Mapped traittype II diabetes mellitus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001360
Study accessionGCST000383
PubMed ID19734900
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19734900
StudyGenetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.
Disease/TraitType 2 diabetes and other traits
Initial sample679 European ancestry cases, 697 European ancestry controls
Replication sample5,579 European ancestry cases, 7,096 European ancestry controls
Region6p22.3
Chromosome idchr6
Chromosome position20657333
Reported geneCDKAL1
Mapped geneCDKAL1
Upstream gene id
Downstream gene id
SNP gene ids54901
Upstream gene distance
Downstream gene distance
SNP risk allelers4712523-G
SNPsrs4712523
Merged0
SNP id current4712523
Contextintron_variant
Intergenic0
Allele frequency0.32
P value0.000000000002
Pvalue mlog11.698970004336
P value text
Or beta1.2
%95 Ci[1.14-1.26]
PlatformIllumina [392365]
CNVN
Mapped traittype II diabetes mellitus, autoantibody measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001360, http://www.ebi.ac.uk/efo/EFO_0004866
Study accessionGCST000478