SNP Detail For rs7775698
1.Mapping Information
Human SNP ID rs7775698
Human chromosome chr6
Human SNP position 135097497
Pig chromosome chr1
Pig SNP position 32424694
2.Annotation Information
PubMed ID19853236
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19853236
StudySequence variants in three loci influence monocyte counts and erythrocyte volume.
Disease/TraitHematology traits
Initial sample2,538 European ancestry individuals, 3,477 individuals
Replication sample1,543 individuals
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-C
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.74
P value0.000000000000000008
Pvalue mlog17.096910013008
P value text(MCV)
Or beta0.19
%95 Ci[0.15-0.23] s.d. decrease
PlatformIllumina, Perlegen [~ 2500000] (imputed)
CNVN
Mapped traitmean corpuscular volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004526
Study accessionGCST000510
PubMed ID19853236
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19853236
StudySequence variants in three loci influence monocyte counts and erythrocyte volume.
Disease/TraitHematology traits
Initial sample2,538 European ancestry individuals, 3,477 individuals
Replication sample1,543 individuals
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-C
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.74
P value0.0000000000005
Pvalue mlog12.3010299956639
P value text(MCH)
Or beta0.19
%95 Ci[0.13-0.25] s.d. decrease
PlatformIllumina, Perlegen [~ 2500000] (imputed)
CNVN
Mapped traitmean corpuscular hemoglobin
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004527
Study accessionGCST000510
PubMed ID20927387
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/20927387
StudyA genome-wide association study of red blood cell traits using the electronic medical record.
Disease/TraitRed blood cell traits
Initial sample3,012 European ancestry individuals
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-T
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.26
P value0.00000000000001
Pvalue mlog14
P value text(RBC count)
Or beta0.09
%95 Ci[0.07-0.11] unit decrease
PlatformIllumina [489421]
CNVN
Mapped traiterythrocyte count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004305
Study accessionGCST000814
PubMed ID20927387
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/20927387
StudyA genome-wide association study of red blood cell traits using the electronic medical record.
Disease/TraitRed blood cell traits
Initial sample3,012 European ancestry individuals
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-T
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.24
P value0.000000000000001
Pvalue mlog15
P value text(MCH)
Or beta0.38
%95 Ci[0.29-0.47] unit increase
PlatformIllumina [489421]
CNVN
Mapped traitmean corpuscular hemoglobin
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004527
Study accessionGCST000814
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/TraitHematological and biochemical traits
Initial sampleUp to 14,402 Japanese individuals
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-T
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.35
P value0.0000000001
Pvalue mlog10
P value text(Ht)
Or beta0.08
%95 Ci[0.056-0.104] unit decrease
PlatformIllumina [561583]
CNVN
Mapped traithematocrit
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004348
Study accessionGCST000583
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/TraitMean corpuscular hemoglobin
Initial sampleUp to 14,362 Japanese ancestry individuals
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-T
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.35
P value3E-66
Pvalue mlog65.5228787452803
P value text
Or beta0.211
%95 Ci[0.19-0.23] unit increase
PlatformIllumina [561583]
CNVN
Mapped traithemoglobin measurement, mean corpuscular hemoglobin
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004509, http://www.ebi.ac.uk/efo/EFO_0004527
Study accessionGCST000587
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/TraitMean corpuscular volume
Initial sample14,364 Japanese ancestry individuals
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-T
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.35
P value3E-56
Pvalue mlog55.5228787452803
P value text
Or beta0.194
%95 Ci[0.17-0.22] unit increase
PlatformIllumina [561583]
CNVN
Mapped traitmean corpuscular volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004526
Study accessionGCST000585
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/TraitPlatelet count
Initial sample14,806 Japanese ancestry individuals
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-T
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.34
P value0.00000000000003
Pvalue mlog13.5228787452803
P value text
Or beta0.093
%95 Ci[0.069-0.117] unit increase
PlatformIllumina [561583]
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST000580
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/TraitMean corpuscular hemoglobin concentration
Initial sample14,377 Japanese ancestry individuals
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-T
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.35
P value0.000000000006
Pvalue mlog11.2218487496163
P value text
Or beta0.085
%95 Ci[0.061-0.109] unit increase
PlatformIllumina [561583]
CNVN
Mapped traithemoglobin measurement, mean corpuscular hemoglobin
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004509, http://www.ebi.ac.uk/efo/EFO_0004527
Study accessionGCST000582
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/TraitRed blood cell count
Initial sample14,392 Japanese ancestry individuals
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-T
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.35
P value7E-48
Pvalue mlog47.1549019599857
P value text
Or beta0.179
%95 Ci[0.16-0.20] unit decrease
PlatformIllumina [561583]
CNVN
Mapped traiterythrocyte count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004305
Study accessionGCST000588
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 volume
Initial sample7,943 African American children, 6,234 European ancestry children
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-T
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.2615
P value0.000000002
Pvalue mlog8.69897000433601
P value text(EA)
Or beta0.5411
%95 Ci[0.37-0.72] unit increase
PlatformIllumina [544917]
CNVN
Mapped traitmean corpuscular volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004526
Study accessionGCST001781
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
Initial sample7,943 African American children, 6,234 European ancestry children
Replication sampleNA
Region6q23.3
Chromosome idchr6
Chromosome position135097497
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance42599
Downstream gene distance9348
SNP risk allelers7775698-T
SNPsrs7775698
Merged0
SNP id current7775698
Contextintron_variant
Intergenic1
Allele frequency0.2615
P value0.0000000000004
Pvalue mlog12.397940008672
P value text(EA)
Or beta0.2534
%95 Ci[0.19-0.32] unit increase
PlatformIllumina [544917]
CNVN
Mapped traitmean corpuscular hemoglobin
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004527
Study accessionGCST001780