SNP Detail For rs3129763
1.Mapping Information
Human SNP ID rs3129763
Human chromosome chr6
Human SNP position 32623148
Pig chromosome chr7
Pig SNP position 29147608
2.Annotation Information
PubMed ID21779181
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21779181
StudyIdentification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
Disease/TraitSystemic sclerosis
Initial sample2,296 European ancestry cases, 5,172 European ancestry controls
Replication sample3,175 European ancestry cases, 4,210 European ancestry controls
Region6p21.32
Chromosome idchr6
Chromosome position32623148
Reported geneHLA-DRB1, HLA-DQA1
Mapped geneHLA-DRB1 - HLA-DQA1
Upstream gene id3123
Downstream gene id3117
SNP gene ids
Upstream gene distance33312
Downstream gene distance14248
SNP risk allelers3129763-?
SNPsrs3129763
Merged0
SNP id current3129763
Contextupstream_gene_variant
Intergenic1
Allele frequency0.25
P value0.00000000001
Pvalue mlog11
P value text(ATA positive)
Or beta1.65
%95 Ci[1.42-1.91]
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitsystemic scleroderma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000717
Study accessionGCST001156