SNP Detail For rs3821236
1.Mapping Information
Human SNP ID rs3821236
Human chromosome chr2
Human SNP position 191038032
Pig chromosome chr15
Pig SNP position 106924810
2.Annotation Information
PubMed ID19165918
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19165918
StudyGenetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Disease/TraitSystemic lupus erythematosus
Initial sample431 European ancestry cases, 2,155 European ancestry controls
Replication sample447 European ancestry trios, 293 trios
Region2q32.2
Chromosome idchr2
Chromosome position191038032
Reported geneSTAT4
Mapped geneSTAT4
Upstream gene id
Downstream gene id
SNP gene ids6775
Upstream gene distance
Downstream gene distance
SNP risk allelers3821236-?
SNPsrs3821236
Merged0
SNP id current3821236
Contextintron_variant
Intergenic0
Allele frequency0.19
P value0.00000000008
Pvalue mlog10.096910013008
P value text
Or beta1.49
%95 Ci[NR]
PlatformAffymetrix [313238]
CNVN
Mapped traitsystemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002690
Study accessionGCST000216
PubMed ID21779181
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21779181
StudyIdentification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
Disease/TraitSystemic sclerosis
Initial sample2,296 European ancestry cases, 5,172 European ancestry controls
Replication sample3,175 European ancestry cases, 4,210 European ancestry controls
Region2q32.2
Chromosome idchr2
Chromosome position191038032
Reported geneSTAT4
Mapped geneSTAT4
Upstream gene id
Downstream gene id
SNP gene ids6775
Upstream gene distance
Downstream gene distance
SNP risk allelers3821236-?
SNPsrs3821236
Merged0
SNP id current3821236
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000009
Pvalue mlog7.04575749056067
P value text(IcSSc)
Or beta1.31
%95 Ci[1.19-1.48]
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitsystemic scleroderma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000717
Study accessionGCST001160
PubMed ID20383147
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20383147
StudyGenome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
Disease/TraitSystemic sclerosis
Initial sample2,296 European ancestry cases, 5,171 European ancestry controls
Replication sample2,753 European ancestry cases, 4,569 European ancestry controls
Region2q32.2
Chromosome idchr2
Chromosome position191038032
Reported geneSTAT4
Mapped geneSTAT4
Upstream gene id
Downstream gene id
SNP gene ids6775
Upstream gene distance
Downstream gene distance
SNP risk allelers3821236-A
SNPsrs3821236
Merged0
SNP id current3821236
Contextintron_variant
Intergenic0
Allele frequency0.2
P value0.000000003
Pvalue mlog8.52287874528033
P value text
Or beta1.3
%95 Ci[1.19-1.41]
PlatformIllumina [279621]
CNVN
Mapped traitsystemic scleroderma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000717
Study accessionGCST000650