SNP Detail For rs4895441
1.Mapping Information
Human SNP ID rs4895441
Human chromosome chr6
Human SNP position 135105435
Pig chromosome chr1
Pig SNP position 32413895
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 volume
Initial sample24,167 European ancestry individuals
Replication sample9,456 European ancestry individuals
Region6q23.3
Chromosome idchr6
Chromosome position135105435
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance50537
Downstream gene distance1410
SNP risk allelers4895441-G
SNPsrs4895441
Merged0
SNP id current4895441
Contextupstream_gene_variant
Intergenic1
Allele frequencyNR
P value7E-86
Pvalue mlog85.1549019599857
P value text
Or beta0.01
%95 Ci[0.007-0.009] fl decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitmean corpuscular volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004526
Study accessionGCST000503
PubMed ID20139978
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20139978
StudyGenome-wide association study of hematological and biochemical traits in a Japanese population.
Disease/TraitWhite blood cell count
Initial sample14,677 Japanese ancestry individuals
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135105435
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance50537
Downstream gene distance1410
SNP risk allelers4895441-G
SNPsrs4895441
Merged0
SNP id current4895441
Contextupstream_gene_variant
Intergenic1
Allele frequency0.37
P value0.000000002
Pvalue mlog8.69897000433601
P value text
Or beta0.073
%95 Ci[0.049-0.097] unit decrease
PlatformIllumina [561583]
CNVN
Mapped traitleukocyte count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004308
Study accessionGCST000589
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 position135105435
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance50537
Downstream gene distance1410
SNP risk allelers4895441-G
SNPsrs4895441
Merged0
SNP id current4895441
Contextupstream_gene_variant
Intergenic1
Allele frequency0.26
P value0.000003
Pvalue mlog5.52287874528033
P value text(MCV)
Or beta0.0088
%95 Ci[0.0051-0.0125] unit increase
PlatformIllumina [~ 2500000] (imputed)
CNVN
Mapped traitmean corpuscular volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004526
Study accessionGCST002109
PubMed ID23263863
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23263863
StudyGWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
Disease/TraitMean corpuscular hemoglobin concentration
Initial sample7,943 African American children, 6,234 European ancestry children
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135105435
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance50537
Downstream gene distance1410
SNP risk allelers4895441-A
SNPsrs4895441
Merged0
SNP id current4895441
Contextupstream_gene_variant
Intergenic1
Allele frequencyNR
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta0.0928
%95 Ci[0.054-0.132] unit decrease
PlatformIllumina [544917]
CNVN
Mapped traitmean corpuscular hemoglobin concentration
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004528
Study accessionGCST001782
PubMed ID25096241
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25096241
StudyTrans-ethnic meta-analysis of white blood cell phenotypes.
Disease/TraitWhite blood cell count
Initial sample16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135105435
Reported geneintergenic
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance50537
Downstream gene distance1410
SNP risk allelers4895441-A
SNPsrs4895441
Merged0
SNP id current4895441
Contextupstream_gene_variant
Intergenic1
Allele frequency0.628
P value0.00000000009
Pvalue mlog10.0457574905606
P value text(Japanese)
Or beta0.018
%95 Ci[0.012-0.024] unit increase
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitleukocyte count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004308
Study accessionGCST002556