Human SNP ID | rs7775698 |
---|---|
Human chromosome | chr6 |
Human SNP position | 135097497 |
Pig chromosome | chr1 |
Pig SNP position | 32424694 |
PubMed ID | 19853236 |
---|---|
Journal | Am J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19853236 |
Study | Sequence variants in three loci influence monocyte counts and erythrocyte volume. |
Disease/Trait | Hematology traits |
Initial sample | 2,538 European ancestry individuals, 3,477 individuals |
Replication sample | 1,543 individuals |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-C |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.74 |
P value | 0.000000000000000008 |
Pvalue mlog | 17.096910013008 |
P value text | (MCV) |
Or beta | 0.19 |
%95 Ci | [0.15-0.23] s.d. decrease |
Platform | Illumina, Perlegen [~ 2500000] (imputed) |
CNV | N |
Mapped trait | mean corpuscular volume |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004526 |
Study accession | GCST000510 |
PubMed ID | 19853236 |
Journal | Am J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19853236 |
Study | Sequence variants in three loci influence monocyte counts and erythrocyte volume. |
Disease/Trait | Hematology traits |
Initial sample | 2,538 European ancestry individuals, 3,477 individuals |
Replication sample | 1,543 individuals |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-C |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.74 |
P value | 0.0000000000005 |
Pvalue mlog | 12.3010299956639 |
P value text | (MCH) |
Or beta | 0.19 |
%95 Ci | [0.13-0.25] s.d. decrease |
Platform | Illumina, Perlegen [~ 2500000] (imputed) |
CNV | N |
Mapped trait | mean corpuscular hemoglobin |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004527 |
Study accession | GCST000510 |
PubMed ID | 20927387 |
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/20927387 |
Study | A genome-wide association study of red blood cell traits using the electronic medical record. |
Disease/Trait | Red blood cell traits |
Initial sample | 3,012 European ancestry individuals |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-T |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.26 |
P value | 0.00000000000001 |
Pvalue mlog | 14 |
P value text | (RBC count) |
Or beta | 0.09 |
%95 Ci | [0.07-0.11] unit decrease |
Platform | Illumina [489421] |
CNV | N |
Mapped trait | erythrocyte count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004305 |
Study accession | GCST000814 |
PubMed ID | 20927387 |
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/20927387 |
Study | A genome-wide association study of red blood cell traits using the electronic medical record. |
Disease/Trait | Red blood cell traits |
Initial sample | 3,012 European ancestry individuals |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-T |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.24 |
P value | 0.000000000000001 |
Pvalue mlog | 15 |
P value text | (MCH) |
Or beta | 0.38 |
%95 Ci | [0.29-0.47] unit increase |
Platform | Illumina [489421] |
CNV | N |
Mapped trait | mean corpuscular hemoglobin |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004527 |
Study accession | GCST000814 |
PubMed ID | 20139978 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
Disease/Trait | Hematological and biochemical traits |
Initial sample | Up to 14,402 Japanese individuals |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-T |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.35 |
P value | 0.0000000001 |
Pvalue mlog | 10 |
P value text | (Ht) |
Or beta | 0.08 |
%95 Ci | [0.056-0.104] unit decrease |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | hematocrit |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004348 |
Study accession | GCST000583 |
PubMed ID | 20139978 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
Disease/Trait | Mean corpuscular hemoglobin |
Initial sample | Up to 14,362 Japanese ancestry individuals |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-T |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.35 |
P value | 3E-66 |
Pvalue mlog | 65.5228787452803 |
P value text | |
Or beta | 0.211 |
%95 Ci | [0.19-0.23] unit increase |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | hemoglobin measurement, mean corpuscular hemoglobin |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004509, http://www.ebi.ac.uk/efo/EFO_0004527 |
Study accession | GCST000587 |
PubMed ID | 20139978 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
Disease/Trait | Mean corpuscular volume |
Initial sample | 14,364 Japanese ancestry individuals |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-T |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.35 |
P value | 3E-56 |
Pvalue mlog | 55.5228787452803 |
P value text | |
Or beta | 0.194 |
%95 Ci | [0.17-0.22] unit increase |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | mean corpuscular volume |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004526 |
Study accession | GCST000585 |
PubMed ID | 20139978 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
Disease/Trait | Platelet count |
Initial sample | 14,806 Japanese ancestry individuals |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-T |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.34 |
P value | 0.00000000000003 |
Pvalue mlog | 13.5228787452803 |
P value text | |
Or beta | 0.093 |
%95 Ci | [0.069-0.117] unit increase |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | platelet count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004309 |
Study accession | GCST000580 |
PubMed ID | 20139978 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
Disease/Trait | Mean corpuscular hemoglobin concentration |
Initial sample | 14,377 Japanese ancestry individuals |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-T |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.35 |
P value | 0.000000000006 |
Pvalue mlog | 11.2218487496163 |
P value text | |
Or beta | 0.085 |
%95 Ci | [0.061-0.109] unit increase |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | hemoglobin measurement, mean corpuscular hemoglobin |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004509, http://www.ebi.ac.uk/efo/EFO_0004527 |
Study accession | GCST000582 |
PubMed ID | 20139978 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
Disease/Trait | Red blood cell count |
Initial sample | 14,392 Japanese ancestry individuals |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-T |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.35 |
P value | 7E-48 |
Pvalue mlog | 47.1549019599857 |
P value text | |
Or beta | 0.179 |
%95 Ci | [0.16-0.20] unit decrease |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | erythrocyte count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004305 |
Study accession | GCST000588 |
PubMed ID | 23263863 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23263863 |
Study | GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. |
Disease/Trait | Mean corpuscular volume |
Initial sample | 7,943 African American children, 6,234 European ancestry children |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-T |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.2615 |
P value | 0.000000002 |
Pvalue mlog | 8.69897000433601 |
P value text | (EA) |
Or beta | 0.5411 |
%95 Ci | [0.37-0.72] unit increase |
Platform | Illumina [544917] |
CNV | N |
Mapped trait | mean corpuscular volume |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004526 |
Study accession | GCST001781 |
PubMed ID | 23263863 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23263863 |
Study | GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. |
Disease/Trait | Mean corpuscular hemoglobin |
Initial sample | 7,943 African American children, 6,234 European ancestry children |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097497 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42599 |
Downstream gene distance | 9348 |
SNP risk allele | rs7775698-T |
SNPs | rs7775698 |
Merged | 0 |
SNP id current | 7775698 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.2615 |
P value | 0.0000000000004 |
Pvalue mlog | 12.397940008672 |
P value text | (EA) |
Or beta | 0.2534 |
%95 Ci | [0.19-0.32] unit increase |
Platform | Illumina [544917] |
CNV | N |
Mapped trait | mean corpuscular hemoglobin |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004527 |
Study accession | GCST001780 |