SNP Detail For rs4320486
1.Mapping Information
Human SNP ID rs4320486
Human chromosome chr7
Human SNP position 108003532
Pig chromosome chr9
Pig SNP position 118515109
2.Annotation Information
PubMed ID24986923
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24986923
StudyA genome-wide association study identifies susceptibility loci of silica related pneumoconiosis in Han Chinese.
Disease/TraitPneumoconiosis in silica exposure
Initial sample202 Han Chinese ancestry cases, 198 Han Chinese ancestry controls
Replication sample490 Han Chinese ancestry cases, 541 Han Chinese ancestry controls
Region7q31.1
Chromosome idchr7
Chromosome position108003532
Reported geneLAMB1
Mapped geneLAMB1 - LAMB4
Upstream gene id3912
Downstream gene id22798
SNP gene ids
Upstream gene distance173
Downstream gene distance454
SNP risk allelers4320486-C
SNPsrs4320486
Merged0
SNP id current4320486
Contextupstream_gene_variant
Intergenic1
Allele frequency0.755
P value0.000004
Pvalue mlog5.39794000867203
P value text
Or beta1.69
%95 Ci[1.35-2.13]
PlatformIllumina [710999] (imputed)
CNVN
Mapped traitpneumoconiosis, response to silica exposure
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_182098, http://www.ebi.ac.uk/efo/EFO_0005853
Study accessionGCST002515