SNP Detail For rs7776054
1.Mapping Information
Human SNP ID rs7776054
Human chromosome chr6
Human SNP position 135097778
Pig chromosome chr1
Pig SNP position 32424426
2.Annotation Information
PubMed ID19862010
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19862010
StudyMultiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Disease/TraitMean corpuscular hemoglobin
Initial sample24,167 European ancestry individuals
Replication sample9,456 European ancestry individuals
Region6q23.3
Chromosome idchr6
Chromosome position135097778
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42880
Downstream gene distance9067
SNP risk allelers7776054-G
SNPsrs7776054
Merged0
SNP id current7776054
Contextintron_variant
Intergenic1
Allele frequencyNR
P value7E-69
Pvalue mlog68.1549019599857
P value text
Or beta0.01
%95 Ci[0.009-0.0111] pg decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitmean corpuscular hemoglobin
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004527
Study accessionGCST000504
PubMed ID23935956
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/23935956
StudyGenome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
Disease/TraitRed blood cell traits
Initial sample1,664 Val Borbera individuals
Replication sample619 Friuli Venezia Giulia individuals, 16,145 European ancestry individuals
Region6q23.3
Chromosome idchr6
Chromosome position135097778
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42880
Downstream gene distance9067
SNP risk allelers7776054-G
SNPsrs7776054
Merged0
SNP id current7776054
Contextintron_variant
Intergenic1
Allele frequency0.24
P value0.000004
Pvalue mlog5.39794000867203
P value text(MCH)
Or beta0.0103
%95 Ci[0.0060-0.0146] unit increase
PlatformIllumina [~ 2500000] (imputed)
CNVN
Mapped traitmean corpuscular hemoglobin
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004527
Study accessionGCST002109
PubMed ID26366553
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26366553
StudyGenome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.
Disease/TraitHemoglobin levels
Initial sample6,602 Sardinian founder individuals
Replication sample4,131 European ancestry individuals
Region6q23.3
Chromosome idchr6
Chromosome position135097778
Reported geneMYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42880
Downstream gene distance9067
SNP risk allelers7776054-G
SNPsrs7776054
Merged0
SNP id current7776054
Contextintron_variant
Intergenic1
Allele frequency0.21
P value4E-19
Pvalue mlog18.397940008672
P value text(HbA2, Sardinian)
Or beta0.1762
%95 Ci[0.14-0.22] percentage increase
PlatformIllumina [~ 10900000] (imputed)
CNVN
Mapped traithemoglobin measurement, hemoglobin A2 measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004509, http://www.ebi.ac.uk/efo/EFO_0005845
Study accessionGCST003122