SNP Detail For rs4910742
1.Mapping Information
Human SNP ID rs4910742
Human chromosome chr11
Human SNP position 5285279
Pig chromosome chr9
Pig SNP position 5664525
2.Annotation Information
PubMed ID18245381
JournalProc Natl Acad Sci U S A
Linkwww.ncbi.nlm.nih.gov/pubmed/18245381
StudyGenome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Disease/TraitFetal hemoglobin levels
Initial sample4,305 European ancestry individuals
Replication sample521 European ancestry individuals
Region11p15.4
Chromosome idchr11
Chromosome position5285279
Reported geneHBB
Mapped geneHBE1 - OR51B4
Upstream gene id3046
Downstream gene id79339
SNP gene ids
Upstream gene distance3334
Downstream gene distance15735
SNP risk allelers4910742-A
SNPsrs4910742
Merged0
SNP id current4910742
Contextintron_variant
Intergenic1
Allele frequency0.93
P value1E-21
Pvalue mlog21
P value text
Or beta0.58
%95 Ci[NR] s.d. decrease in HbF
PlatformAffymetrix [362129]
CNVN
Mapped traitfetal hemoglobin measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004576
Study accessionGCST000150
PubMed ID22291609
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22291609
StudyA genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
Disease/TraitInflammatory biomarkers
Initial sample4,694 Sardinian individuals
Replication sample1,392 Sardinian individuals
Region11p15.4
Chromosome idchr11
Chromosome position5285279
Reported geneHBB
Mapped geneHBE1 - OR51B4
Upstream gene id3046
Downstream gene id79339
SNP gene ids
Upstream gene distance3334
Downstream gene distance15735
SNP risk allelers4910742-G
SNPsrs4910742
Merged0
SNP id current4910742
Contextintron_variant
Intergenic1
Allele frequency0.066
P value0.000000002
Pvalue mlog8.69897000433601
P value text(ESR)
Or beta
%95 Ci
PlatformAffymetrix [~ 1900000] (imputed)
CNVN
Mapped traitblood sedimentation
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004304
Study accessionGCST001385