Human SNP ID | rs7776054 |
---|---|
Human chromosome | chr6 |
Human SNP position | 135097778 |
Pig chromosome | chr1 |
Pig SNP position | 32424426 |
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 hemoglobin |
Initial sample | 24,167 European ancestry individuals |
Replication sample | 9,456 European ancestry individuals |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097778 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42880 |
Downstream gene distance | 9067 |
SNP risk allele | rs7776054-G |
SNPs | rs7776054 |
Merged | 0 |
SNP id current | 7776054 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 7E-69 |
Pvalue mlog | 68.1549019599857 |
P value text | |
Or beta | 0.01 |
%95 Ci | [0.009-0.0111] pg decrease |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | mean corpuscular hemoglobin |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004527 |
Study accession | GCST000504 |
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 | 135097778 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42880 |
Downstream gene distance | 9067 |
SNP risk allele | rs7776054-G |
SNPs | rs7776054 |
Merged | 0 |
SNP id current | 7776054 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.24 |
P value | 0.000004 |
Pvalue mlog | 5.39794000867203 |
P value text | (MCH) |
Or beta | 0.0103 |
%95 Ci | [0.0060-0.0146] unit increase |
Platform | Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | mean corpuscular hemoglobin |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004527 |
Study accession | GCST002109 |
PubMed ID | 26366553 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/26366553 |
Study | Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. |
Disease/Trait | Hemoglobin levels |
Initial sample | 6,602 Sardinian founder individuals |
Replication sample | 4,131 European ancestry individuals |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135097778 |
Reported gene | MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 42880 |
Downstream gene distance | 9067 |
SNP risk allele | rs7776054-G |
SNPs | rs7776054 |
Merged | 0 |
SNP id current | 7776054 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.21 |
P value | 4E-19 |
Pvalue mlog | 18.397940008672 |
P value text | (HbA2, Sardinian) |
Or beta | 0.1762 |
%95 Ci | [0.14-0.22] percentage increase |
Platform | Illumina [~ 10900000] (imputed) |
CNV | N |
Mapped trait | hemoglobin measurement, hemoglobin A2 measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004509, http://www.ebi.ac.uk/efo/EFO_0005845 |
Study accession | GCST003122 |