SNP Detail For rs4948496
1.Mapping Information
Human SNP ID rs4948496
Human chromosome chr10
Human SNP position 62045858
Pig chromosome chr14
Pig SNP position 70606111
2.Annotation Information
PubMed ID23273568
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23273568
StudyMeta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
Disease/TraitSystemic lupus erythematosus
Initial sample1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls
Replication sample3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls
Region10q21.2
Chromosome idchr10
Chromosome position62045858
Reported geneARID5B, RTKN2
Mapped geneARID5B
Upstream gene id
Downstream gene id
SNP gene ids84159
Upstream gene distance
Downstream gene distance
SNP risk allelers4948496-C
SNPsrs4948496
Merged0
SNP id current4948496
Contextintron_variant
Intergenic0
Allele frequency0.63
P value0.00000000005
Pvalue mlog10.3010299956639
P value text
Or beta1.1765
%95 Ci
PlatformIllumina [2100739] (imputed)
CNVN
Mapped traitsystemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002690
Study accessionGCST001795
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
Region10q21.2
Chromosome idchr10
Chromosome position62045858
Reported geneARID5B
Mapped geneARID5B
Upstream gene id
Downstream gene id
SNP gene ids84159
Upstream gene distance
Downstream gene distance
SNP risk allelers4948496-C
SNPsrs4948496
Merged0
SNP id current4948496
Contextintron_variant
Intergenic0
Allele frequency
P value0.0000000001
Pvalue mlog10
P value text
Or beta1.14
%95 Ci[1.10鈥?.19]
PlatformIllumina [644674]
CNVN
Mapped traitsystemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002690
Study accessionGCST003155