SNP Detail For rs12928404
1.Mapping Information
Human SNP ID rs12928404
Human chromosome chr16
Human SNP position 28835925
Pig chromosome chr3
Pig SNP position 18703060
2.Annotation Information
PubMed ID26301688
JournalNat Med
Linkwww.ncbi.nlm.nih.gov/pubmed/26301688
StudyMeta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
Disease/TraitPediatric autoimmune diseases
Initial sample97 European ancestry thyroiditis cases, 107 European ancestry ankylosing spondylitis cases, 100 European ancestry psoriasis cases, 173 European ancestry celiac disease cases, 254 European ancestry systemic lupus erythematosus cases, 308 European ancestry
Replication sampleNA
Region16p11.2
Chromosome idchr16
Chromosome position28835925
Reported geneATXN2L
Mapped geneATXN2L
Upstream gene id
Downstream gene id
SNP gene ids11273
Upstream gene distance
Downstream gene distance
SNP risk allelers12928404-C
SNPsrs12928404
Merged
SNP id current12928404
Contextsplice_region_variant
Intergenic0
Allele frequency0.38
P value0.0000006
Pvalue mlog6.22184874961635
P value text
Or beta
%95 Ci
PlatformIllumina [7347414] (imputed)
CNVN
Mapped traitautoimmune thyroid disease, type I diabetes mellitus, Common variable immunodeficiency, chronic childhood arthritis, ankylosing spondylitis, psoriasis, celiac disease, ulcerative colitis, Crohn__s disease, autoimmune disease, systemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006812, http://www.ebi.ac.uk/efo/EFO_0001359, http://www.orpha.net/ORDO/Orphanet_1572, http://www.ebi.ac.uk/efo/EFO_0002609, http://www.ebi.ac.uk/efo/EFO_0003898, http://www.ebi.ac.uk/efo/EFO_0000676, http://www.ebi.ac.uk/efo
Study accessionGCST003097