SNP Detail For rs4963128
1.Mapping Information
Human SNP ID rs4963128
Human chromosome chr11
Human SNP position 589564
Pig chromosome chr2
Pig SNP position 324164
2.Annotation Information
PubMed ID18204446
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18204446
StudyGenome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
Disease/TraitSystemic lupus erythematosus
Initial sample720 European ancestry female cases, 2,337 European ancestry female controls
Replication sample1,846 European ancestry female cases, 1,825 European ancestry female controls
Region11p15.5
Chromosome idchr11
Chromosome position589564
Reported geneKIAA1542
Mapped genePHRF1
Upstream gene id
Downstream gene id
SNP gene ids57661
Upstream gene distance
Downstream gene distance
SNP risk allelers4963128-?
SNPsrs4963128
Merged0
SNP id current4963128
Contextintron_variant
Intergenic0
Allele frequency0.34
P value0.0000000003
Pvalue mlog9.52287874528033
P value text
Or beta1.28
%95 Ci[1.18-1.37]
PlatformIllumina [317501]
CNVN
Mapped traitsystemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002690
Study accessionGCST000142
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
Region11p15.5
Chromosome idchr11
Chromosome position589564
Reported geneKIAA1542
Mapped genePHRF1
Upstream gene id
Downstream gene id
SNP gene ids57661
Upstream gene distance
Downstream gene distance
SNP risk allelers4963128-?
SNPsrs4963128
Merged0
SNP id current4963128
Contextintron_variant
Intergenic0
Allele frequency0.66
P value0.000004
Pvalue mlog5.39794000867203
P value text(anti-dsDNA +)
Or beta1.33
%95 Ci[1.18-1.49]
PlatformIllumina [421318] (imputed)
CNVN
Mapped traitsystemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002690
Study accessionGCST000996