SNP Detail For rs1403543
1.Mapping Information
Human SNP ID rs1403543
Human chromosome chrX
Human SNP position 116170939
Pig chromosome chrX
Pig SNP position 109826554
2.Annotation Information
PubMed ID21602797
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21602797
StudyGenome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
Disease/TraitCystic fibrosis severity
Initial sample2,317 European ancestry cases, 177 cases
Replication sample898 European ancestry sibling pair cases, 75 sibling pair cases
RegionXq23
Chromosome idchrX
Chromosome position116170939
Reported geneAGTR2
Mapped geneAGTR2
Upstream gene id
Downstream gene id
SNP gene ids186
Upstream gene distance
Downstream gene distance
SNP risk allelers1403543-A
SNPsrs1403543
Merged0
SNP id current1403543
Contextintron_variant
Intergenic0
Allele frequency0.51
P value0.000002
Pvalue mlog5.69897000433601
P value text
Or beta
%95 Ci
PlatformIllumina [~ 2609000] (imputed)
CNVN
Mapped traitCystic fibrosis
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_586
Study accessionGCST001077