rs2071348
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs2071348(A;A) |
| Make rs2071348(A;C) |
| Make rs2071348(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5242916 |
| Gene | HBBP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2071348 |
| dbSNP (classic) | rs2071348 |
| ClinGen | rs2071348 |
| ebi | rs2071348 |
| HLI | rs2071348 |
| Exac | rs2071348 |
| Gnomad | rs2071348 |
| Varsome | rs2071348 |
| LitVar | rs2071348 |
| Map | rs2071348 |
| PheGenI | rs2071348 |
| Biobank | rs2071348 |
| 1000 genomes | rs2071348 |
| hgdp | rs2071348 |
| ensembl | rs2071348 |
| geneview | rs2071348 |
| scholar | rs2071348 |
| rs2071348 | |
| pharmgkb | rs2071348 |
| gwascentral | rs2071348 |
| openSNP | rs2071348 |
| 23andMe | rs2071348 |
| SNPshot | rs2071348 |
| SNPdbe | rs2071348 |
| MSV3d | rs2071348 |
| GWAS Ctlg | rs2071348 |
| GMAF | 0.202 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 19924444] |
| Trait | Beta thalassemia/hemoglobin E disease |
| Title | A genome-wide association identified the common genetic variants influence disease severity in beta(0)-thalassemia/hemoglobin E |
| Risk Allele | |
| P-val | 3E-15 |
| Odds Ratio | 4.05 [2.64-6.21] |
| GWAS snp | |
|---|---|
| PMID | [PMID 20183929] |
| Trait | Beta thalassemia/hemoglobin E disease |
| Title | A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. |
| Risk Allele | |
| P-val | 3E-15 |
| Odds Ratio | 4.0500 [2.64-6.21] |
[PMID 17688704
] Classical sickle beta-globin haplotypes exhibit a high degree of long-range haplotype similarity in African and Afro-Caribbean populations.
[PMID 20353593] Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study.
[PMID 22943111] A single nucleotide polymorphism in the HBBP1 gene in the human beta-globin locus is associated with a mild beta-thalassemia disease phenotype.
