SNP Detail For rs12530
1.Mapping Information
Human SNP ID rs12530
Human chromosome chr22
Human SNP position 32387917
Pig chromosome chr5
Pig SNP position 12392145
2.Annotation Information
PubMed ID23382691
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23382691
StudyLoci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
Disease/TraitIgG glycosylation
Initial sample2,247 European ancestry individuals
Replication sampleNA
Region22q12.3
Chromosome idchr22
Chromosome position32387917
Reported geneNR
Mapped geneRTCB
Upstream gene id
Downstream gene id
SNP gene ids51493
Upstream gene distance
Downstream gene distance
SNP risk allelers12530-C
SNPsrs12530
Merged0
SNP id current12530
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.18432396929239
P value0.000003
Pvalue mlog5.52287874528033
P value text(IGP40)
Or beta0.1828
%95 Ci[0.11-0.26] unit increase
PlatformIllumina [~ 2500000] (imputed)
CNVN
Mapped traitserum IgG glycosylation measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005193
Study accessionGCST001848