SNP Detail For rs12883884
1.Mapping Information
Human SNP ID rs12883884
Human chromosome chr14
Human SNP position 70050466
Pig chromosome chr7
Pig SNP position 99962135
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
Region14q24.2
Chromosome idchr14
Chromosome position70050466
Reported geneSLC8A3
Mapped geneSLC8A3
Upstream gene id
Downstream gene id
SNP gene ids6547
Upstream gene distance
Downstream gene distance
SNP risk allelers12883884-T
SNPsrs12883884
Merged0
SNP id current12883884
Contextintron_variant
Intergenic0
Allele frequency0.61
P value0.000008
Pvalue mlog5.09691001300805
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