SNP Detail For rs2431697
1.Mapping Information
Human SNP ID rs2431697
Human chromosome chr5
Human SNP position 160452971
Pig chromosome chr16
Pig SNP position 68426188
2.Annotation Information
PubMed ID21408207
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21408207
StudyDifferential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Disease/TraitSystemic lupus erythematosus
Initial sample811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls
Replication sampleNA
Region5q33.3
Chromosome idchr5
Chromosome position160452971
Reported genePTTG1
Mapped genePTTG1 - MIR3142
Upstream gene id9232
Downstream gene id100422938
SNP gene ids
Upstream gene distance24227
Downstream gene distance21473
SNP risk allelers2431697-?
SNPsrs2431697
Merged0
SNP id current2431697
Contextintergenic_variant
Intergenic1
Allele frequency0.56
P value0.000002
Pvalue mlog5.69897000433601
P value text(anti-dsDNA +)
Or beta1.32
%95 Ci[1.18-1.47]
PlatformIllumina [421318] (imputed)
CNVN
Mapped traitsystemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002690
Study accessionGCST000996
PubMed ID26502338
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26502338
StudyGenetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
Disease/TraitSystemic lupus erythematosus
Initial sample5,201 European ancestry cases, 9,066 European ancestry controls
Replication sample2,018 European ancestry cases, 6,925 European ancestry controls
Region5q33.3
Chromosome idchr5
Chromosome position160452971
Reported geneMIR146A
Mapped genePTTG1 - MIR3142
Upstream gene id9232
Downstream gene id100422938
SNP gene ids
Upstream gene distance24227
Downstream gene distance21473
SNP risk allelers2431697-T
SNPsrs2431697
Merged0
SNP id current2431697
Contextintergenic_variant
Intergenic1
Allele frequency
P value8E-28
Pvalue mlog27.096910013008
P value text
Or beta1.26
%95 Ci[1.21鈥?.31]
PlatformIllumina [644674]
CNVN
Mapped traitsystemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002690
Study accessionGCST003155