SNP Detail For rs9483788
1.Mapping Information
Human SNP ID rs9483788
Human chromosome chr6
Human SNP position 135114363
Pig chromosome chr1
Pig SNP position 32403448
2.Annotation Information
PubMed ID19862010
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19862010
StudyMultiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Disease/TraitOther erythrocyte phenotypes
Initial sample24,167 European ancestry individuals
Replication sample9,456 European ancestry individuals
Region6q23.3
Chromosome idchr6
Chromosome position135114363
Reported geneHBS1L, MYB
Mapped geneLOC105378010 - MYB
Upstream gene id105378010
Downstream gene id4602
SNP gene ids
Upstream gene distance3940
Downstream gene distance66618
SNP risk allelers9483788-G
SNPsrs9483788
Merged0
SNP id current9483788
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value1E-47
Pvalue mlog47
P value text(RBC)
Or beta0
%95 Ci[0.012-0.016] 1 M cells/mm^3 increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traiterythrocyte count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004305
Study accessionGCST000500
PubMed ID19862010
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19862010
StudyMultiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Disease/TraitHematocrit
Initial sample24,167 European ancestry individuals
Replication sample9,456 European ancestry individuals
Region6q23.3
Chromosome idchr6
Chromosome position135114363
Reported geneHBS1L, MYB
Mapped geneLOC105378010 - MYB
Upstream gene id105378010
Downstream gene id4602
SNP gene ids
Upstream gene distance3940
Downstream gene distance66618
SNP risk allelers9483788-C
SNPsrs9483788
Merged0
SNP id current9483788
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000000000000003
Pvalue mlog14.5228787452803
P value text
Or beta0.22
%95 Ci[0.16-0.28] % increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traithematocrit
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004348
Study accessionGCST000502