Human SNP ID | rs2071348 |
---|---|
Human chromosome | chr11 |
Human SNP position | 5242916 |
Pig chromosome | chr9 |
Pig SNP position | 5646144 |
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 | 11p15.4 |
Chromosome id | chr11 |
Chromosome position | 5242916 |
Reported gene | HBE1, HBG2, HBD, HBBP1, HBG1 |
Mapped gene | HBBP1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 3044 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2071348-? |
SNPs | rs2071348 |
Merged | 0 |
SNP id current | 2071348 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.5 |
P value | 0.000000000000003 |
Pvalue mlog | 14.5228787452803 |
P value text | |
Or beta | 4.05 |
%95 Ci | [2.64-6.21] |
Platform | Illumina [548094] |
CNV | N |
Mapped trait | Hemoglobin E disease |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_2133 |
Study accession | GCST000532 |