Human SNP ID | rs4895441 |
---|---|
Human chromosome | chr6 |
Human SNP position | 135105435 |
Pig chromosome | chr1 |
Pig SNP position | 32413895 |
PubMed ID | 19862010 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19862010 |
Study | Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. |
Disease/Trait | Mean corpuscular volume |
Initial sample | 24,167 European ancestry individuals |
Replication sample | 9,456 European ancestry individuals |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135105435 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 50537 |
Downstream gene distance | 1410 |
SNP risk allele | rs4895441-G |
SNPs | rs4895441 |
Merged | 0 |
SNP id current | 4895441 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 7E-86 |
Pvalue mlog | 85.1549019599857 |
P value text | |
Or beta | 0.01 |
%95 Ci | [0.007-0.009] fl decrease |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | mean corpuscular volume |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004526 |
Study accession | GCST000503 |
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 | White blood cell count |
Initial sample | 14,677 Japanese ancestry individuals |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135105435 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 50537 |
Downstream gene distance | 1410 |
SNP risk allele | rs4895441-G |
SNPs | rs4895441 |
Merged | 0 |
SNP id current | 4895441 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | 0.37 |
P value | 0.000000002 |
Pvalue mlog | 8.69897000433601 |
P value text | |
Or beta | 0.073 |
%95 Ci | [0.049-0.097] unit decrease |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | leukocyte count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004308 |
Study accession | GCST000589 |
PubMed ID | 23935956 |
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/23935956 |
Study | Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans. |
Disease/Trait | Red blood cell traits |
Initial sample | 1,664 Val Borbera individuals |
Replication sample | 619 Friuli Venezia Giulia individuals, 16,145 European ancestry individuals |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135105435 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 50537 |
Downstream gene distance | 1410 |
SNP risk allele | rs4895441-G |
SNPs | rs4895441 |
Merged | 0 |
SNP id current | 4895441 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | 0.26 |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | (MCV) |
Or beta | 0.0088 |
%95 Ci | [0.0051-0.0125] unit increase |
Platform | Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | mean corpuscular volume |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004526 |
Study accession | GCST002109 |
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 concentration |
Initial sample | 7,943 African American children, 6,234 European ancestry children |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135105435 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 50537 |
Downstream gene distance | 1410 |
SNP risk allele | rs4895441-A |
SNPs | rs4895441 |
Merged | 0 |
SNP id current | 4895441 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | |
Or beta | 0.0928 |
%95 Ci | [0.054-0.132] unit decrease |
Platform | Illumina [544917] |
CNV | N |
Mapped trait | mean corpuscular hemoglobin concentration |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004528 |
Study accession | GCST001782 |
PubMed ID | 25096241 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25096241 |
Study | Trans-ethnic meta-analysis of white blood cell phenotypes. |
Disease/Trait | White blood cell count |
Initial sample | 16,843 Japanese ancestry individuals, 19,509 European ancestry individuals, 16,388 African American individuals |
Replication sample | NA |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135105435 |
Reported gene | intergenic |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 50537 |
Downstream gene distance | 1410 |
SNP risk allele | rs4895441-A |
SNPs | rs4895441 |
Merged | 0 |
SNP id current | 4895441 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | 0.628 |
P value | 0.00000000009 |
Pvalue mlog | 10.0457574905606 |
P value text | (Japanese) |
Or beta | 0.018 |
%95 Ci | [0.012-0.024] unit increase |
Platform | Illumina [NR] (imputed) |
CNV | N |
Mapped trait | leukocyte count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004308 |
Study accession | GCST002556 |