SNP Detail For rs17696736
1.Mapping Information
Human SNP ID rs17696736
Human chromosome chr12
Human SNP position 112049014
Pig chromosome chr14
Pig SNP position 42148012
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)
Region12q24.13
Chromosome idchr12
Chromosome position112049014
Reported geneSH2B3, TRAFD1, PTPN11, LNK
Mapped geneNAA25
Upstream gene id
Downstream gene id
SNP gene ids80018
Upstream gene distance
Downstream gene distance
SNP risk allelers17696736-G
SNPsrs17696736
Merged0
SNP id current17696736
Contextintron_variant
Intergenic0
Allele frequency0.42
P value0.00000000000002
Pvalue mlog13.698970004336
P value text
Or beta1.34
%95 Ci[1.16-1.53]
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
Region12q24.13
Chromosome idchr12
Chromosome position112049014
Reported geneC12orf30
Mapped geneNAA25
Upstream gene id
Downstream gene id
SNP gene ids80018
Upstream gene distance
Downstream gene distance
SNP risk allelers17696736-G
SNPsrs17696736
Merged0
SNP id current17696736
Contextintron_variant
Intergenic0
Allele frequency0.42
P value0.0000000000000002
Pvalue mlog15.698970004336
P value text
Or beta1.22
%95 Ci[1.15-1.28]
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
Region12q24.13
Chromosome idchr12
Chromosome position112049014
Reported geneC12orf30
Mapped geneNAA25
Upstream gene id
Downstream gene id
SNP gene ids80018
Upstream gene distance
Downstream gene distance
SNP risk allelers17696736-G
SNPsrs17696736
Merged0
SNP id current17696736
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000000000000000006
Pvalue mlog17.2218487496163
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 ID24262325
JournalStroke
Linkwww.ncbi.nlm.nih.gov/pubmed/24262325
StudyShared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Disease/TraitIschemic stroke
Initial sample12,389 cases, 62,004 controls
Replication sampleNA
Region12q24.13
Chromosome idchr12
Chromosome position112049014
Reported geneSH2B3
Mapped geneNAA25
Upstream gene id
Downstream gene id
SNP gene ids80018
Upstream gene distance
Downstream gene distance
SNP risk allelers17696736-G
SNPsrs17696736
Merged0
SNP id current17696736
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000006
Pvalue mlog7.22184874961635
P value text
Or beta1.1
%95 Ci[1.06-1.14]
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitstroke
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000712
Study accessionGCST002286