Human SNP ID | rs4910742 |
---|---|
Human chromosome | chr11 |
Human SNP position | 5285279 |
Pig chromosome | chr9 |
Pig SNP position | 5664525 |
PubMed ID | 18245381 |
---|---|
Journal | Proc Natl Acad Sci U S A |
Link | www.ncbi.nlm.nih.gov/pubmed/18245381 |
Study | Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. |
Disease/Trait | Fetal hemoglobin levels |
Initial sample | 4,305 European ancestry individuals |
Replication sample | 521 European ancestry individuals |
Region | 11p15.4 |
Chromosome id | chr11 |
Chromosome position | 5285279 |
Reported gene | HBB |
Mapped gene | HBE1 - OR51B4 |
Upstream gene id | 3046 |
Downstream gene id | 79339 |
SNP gene ids | |
Upstream gene distance | 3334 |
Downstream gene distance | 15735 |
SNP risk allele | rs4910742-A |
SNPs | rs4910742 |
Merged | 0 |
SNP id current | 4910742 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.93 |
P value | 1E-21 |
Pvalue mlog | 21 |
P value text | |
Or beta | 0.58 |
%95 Ci | [NR] s.d. decrease in HbF |
Platform | Affymetrix [362129] |
CNV | N |
Mapped trait | fetal hemoglobin measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004576 |
Study accession | GCST000150 |
PubMed ID | 22291609 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22291609 |
Study | A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. |
Disease/Trait | Inflammatory biomarkers |
Initial sample | 4,694 Sardinian individuals |
Replication sample | 1,392 Sardinian individuals |
Region | 11p15.4 |
Chromosome id | chr11 |
Chromosome position | 5285279 |
Reported gene | HBB |
Mapped gene | HBE1 - OR51B4 |
Upstream gene id | 3046 |
Downstream gene id | 79339 |
SNP gene ids | |
Upstream gene distance | 3334 |
Downstream gene distance | 15735 |
SNP risk allele | rs4910742-G |
SNPs | rs4910742 |
Merged | 0 |
SNP id current | 4910742 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.066 |
P value | 0.000000002 |
Pvalue mlog | 8.69897000433601 |
P value text | (ESR) |
Or beta | |
%95 Ci | |
Platform | Affymetrix [~ 1900000] (imputed) |
CNV | N |
Mapped trait | blood sedimentation |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004304 |
Study accession | GCST001385 |