{{Rsnum
|rsid=2071348
|Gene=HBBP1
|Chromosome=11
|position=5242916
|Orientation=minus
|GMAF=0.202
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=HBBP1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 40.7 | 50.4 | 8.8
| HCB | 73.7 | 24.1 | 2.2
| JPT | 72.1 | 27.0 | 0.9
| YRI | 85.0 | 14.3 | 0.7
| ASW | 84.2 | 15.8 | 0.0
| CHB | 73.7 | 24.1 | 2.2
| CHD | 79.8 | 17.4 | 2.8
| GIH | 64.4 | 30.7 | 5.0
| LWK | 81.8 | 17.3 | 0.9
| MEX | 67.2 | 20.7 | 12.1
| MKK | 85.3 | 14.1 | 0.6
| TSI | 51.5 | 34.7 | 13.9
| HapMapRevision=28
}}{{PMID Auto GWAS
|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
|RiskAllele=
|Pval=3E-15
|OR=4.05
|ORtxt=[2.64-6.21]
}}

{{PMID Auto GWAS
|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.
|RiskAllele=
|Pval=3E-15
|OR=4.0500
|ORtxt=[2.64-6.21]
}}

{{PMID Auto
|PMID=17688704
|Title=Classical sickle beta-globin haplotypes exhibit a high degree of long-range haplotype similarity in African and Afro-Caribbean populations.
|OA=1
}}

{{PMID Auto
|PMID=20353593
|Title=Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2071348
|overall_frequency_n=26
|overall_frequency_d=128
|overall_frequency=0.203125
|n_genomes=18
|n_genomes_annotated=0
|n_haplomes=20
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=22943111
|Title=A single nucleotide polymorphism in the HBBP1 gene in the human beta-globin locus is associated with a mild beta-thalassemia disease phenotype.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}