Human SNP ID | rs9376092 |
---|---|
Human chromosome | chr6 |
Human SNP position | 135106006 |
Pig chromosome | chr1 |
Pig SNP position | 32413255 |
PubMed ID | 20183929 |
---|---|
Journal | Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20183929 |
Study | A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. |
Disease/Trait | Beta thalassemia/hemoglobin E disease |
Initial sample | 235 Thai-Chinese ancestry mild cases, 383 Thai-Chinese ancestry severe cases |
Replication sample | 52 Indonesian ancestry mild cases, 122 Indonesian ancestry severe cases |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135106006 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 51108 |
Downstream gene distance | 839 |
SNP risk allele | rs9376092-? |
SNPs | rs9376092 |
Merged | 0 |
SNP id current | 9376092 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | 0.23 |
P value | 0.00000000002 |
Pvalue mlog | 10.698970004336 |
P value text | |
Or beta | 2.91 |
%95 Ci | [2.12-3.99] |
Platform | Illumina [548094] |
CNV | N |
Mapped trait | Hemoglobin E disease |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_2133 |
Study accession | GCST000532 |
PubMed ID | 25849990 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/25849990 |
Study | Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. |
Disease/Trait | Myeloproliferative neoplasms |
Initial sample | 524 European ancestry JAK2 negative cases, 2,674 European ancestry controls |
Replication sample | 1,383 European ancestry JAK2 negative cases, 4,609 European ancestry controls, 526 JAK2 negative cases, 5,506 controls |
Region | 6q23.3 |
Chromosome id | chr6 |
Chromosome position | 135106006 |
Reported gene | HBS1L, MYB |
Mapped gene | HBS1L - LOC105378010 |
Upstream gene id | 10767 |
Downstream gene id | 105378010 |
SNP gene ids | |
Upstream gene distance | 51108 |
Downstream gene distance | 839 |
SNP risk allele | rs9376092-A |
SNPs | rs9376092 |
Merged | 0 |
SNP id current | 9376092 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | 0.27 |
P value | 0.000005 |
Pvalue mlog | 5.30102999566398 |
P value text | |
Or beta | 1.18 |
%95 Ci | [1.10-1.26] |
Platform | Affymetrix [2098039] (imputed) |
CNV | N |
Mapped trait | myeloproliferative disorder |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004251 |
Study accession | GCST002840 |