chr11:5246694:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,246,694-5,248,427 |
| hg38 | chr11:5,225,464-5,227,197 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.127 | beta^0^ Thalassemia | NA | CLINVAR | Detail | |
| <0.001 | Chest Pain | NA | BeFree | Detail | |
| 0.005 | cholelithiasis | NA | GAD | Detail | |
| 0.002 | Coronary Arteriosclerosis | NA | GAD | Detail | |
| 0.002 | Coronary heart disease | NA | GAD | Detail | |
| 0.120 | Cyanosis | NA | CTD_human | Detail | |
| <0.001 | cystic fibrosis | NA | BeFree | Detail | |
| 0.002 | Diabetes Mellitus, Insulin-Dependent | NA | GAD | Detail | |
| 0.120 | echinococcosis | NA | CTD_human | Detail | |
| <0.001 | Exanthema | β-globin genes: mutation hot-spots in the global thalassemia belt. | BeFree | 25523871 | Detail |
| 0.009 | Fetal Diseases | NA | GAD | Detail | |
| <0.001 | gastritis | HER2/HBB and MYC/HBB ratios in tissue and cell-free plasma from gastric cancer p... | BeFree | 24670359 | Detail |
| 0.002 | Sensorineural Hearing Loss (disorder) | NA | GAD | Detail | |
| 0.002 | cardiac arrest | NA | BeFree | Detail | |
| 0.001 | Hematological Disease | NA | BeFree | Detail | |
| 0.002 | hemochromatosis | NA | GAD | Detail | |
| 0.122 | hemoglobin C disease | NA | GAD,ORPHANET | Detail | |
| 0.006 | Hemoglobin F Disease | NA | BeFree | Detail | |
| 0.128 | Hemoglobin SC Disease | NA | BeFree,GAD,ORPHANET | Detail | |
| 0.263 | Hemoglobinopathies | Recent experimental evidence suggest that besides genomic variation within the h... | BeFree,CLINVAR,CTD_human,GAD | 25155936 | Detail |
| 0.002 | Hemolysis (disorder) | NA | GAD | Detail | |
| <0.001 | hepatitis B | NA | BeFree | Detail | |
| <0.001 | Herpes NOS | NA | BeFree | Detail | |
| <0.001 | Herpes Simplex Infections | NA | BeFree | Detail | |
| 0.005 | HIV Infections | NA | BeFree,GAD | Detail | |
| 0.002 | Hydrops fetalis | NA | GAD | Detail | |
| 0.005 | Hypertensive disease | NA | GAD | Detail | |
| 0.002 | Inflammation | NA | GAD | Detail | |
| 0.008 | Acute Erythroblastic Leukemia | Using chromatin immunoprecipitation assays, we show that PIAS3 preferentially oc... | BeFree | 25713074 | Detail |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.020 | malaria | Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is wid... | BeFree,GAD,LHGDN | 24361300 | Detail |
| 0.020 | malaria | Current knowledge of the genetic basis of parasitemia levels and IgG levels is r... | BeFree,GAD,LHGDN | 25887595 | Detail |
| 0.002 | Malaria, Cerebral | NA | GAD | Detail | |
| 0.138 | Malaria, Falciparum | NA | BeFree,CTD_human,GAD | Detail | |
| 0.120 | methemoglobinemia | NA | CTD_human | Detail | |
| <0.001 | Mycoses | Significant time-dependent degradation of human DNA in FFPE sample extracts was ... | BeFree | 25518949 | Detail |
| 0.001 | Neoplasm Metastasis | Using mRNA expression profiles retrieved from microarrays deposited in the Gene ... | BeFree | 25891226 | Detail |
| <0.001 | ovarian carcinoma | Using mRNA expression profiles retrieved from microarrays deposited in the Gene ... | BeFree | 25891226 | Detail |
| 0.002 | Pain | NA | GAD | Detail | |
| <0.001 | Phenylketonurias | NA | BeFree | Detail | |
| 0.121 | polycythemia | NA | BeFree,CTD_human | Detail | |
| 0.120 | polycythemia vera | NA | CTD_human | Detail | |
| 0.002 | Pregnancy Complications, Hematologic | NA | GAD | Detail | |
| 0.002 | Pregnancy Complications, Infectious | NA | GAD | Detail | |
| <0.001 | rhinitis | NA | BeFree | Detail | |
| 0.017 | Sickle Cell Trait | NA | BeFree,GAD | Detail | |
| 0.003 | Cerebrovascular accident | NA | BeFree,GAD | Detail | |
| 0.065 | thalassemia | As a basis for developing transgenic induced pluripotent stem cell therapies for... | BeFree,GAD,LHGDN | 24816238 | Detail |
| 0.065 | thalassemia | Overall survival was not found to be associated with the β-globin gene mutation ... | BeFree,GAD,LHGDN | 25017762 | Detail |
| 0.065 | thalassemia | Although the globin genes of the HBB locus are intact, most of these patients su... | BeFree,GAD,LHGDN | 25186056 | Detail |
| 0.065 | thalassemia | Here, we describe a next-generation sequencing (NGS) method that is able to iden... | BeFree,GAD,LHGDN | 25331561 | Detail |
| 0.065 | thalassemia | β-globin genes: mutation hot-spots in the global thalassemia belt. | BeFree,GAD,LHGDN | 25523871 | Detail |
| 0.065 | thalassemia | A novel promoter mutation (HBB: c.-75G>T) was identified as a cause of β(+)-thal... | BeFree,GAD,LHGDN | 25657036 | Detail |
| 0.065 | thalassemia | Confirmation of the β-globin gene mutations involved in thalassemia is usually c... | BeFree,GAD,LHGDN | 26554253 | Detail |
| 0.003 | Thyroid Neoplasm | NA | LHGDN | Detail | |
| 0.002 | trachoma | NA | GAD | Detail | |
| 0.002 | Buruli Ulcer | NA | GAD | Detail | |
| <0.001 | Iron-refractory iron deficiency anemia | NA | BeFree | Detail | |
| 0.080 | Intracranial Hemorrhages | NA | RGD | Detail | |
| 0.002 | Myocardial Ischemia | NA | GAD | Detail | |
| <0.001 | Familial erythrocytosis | NA | BeFree | Detail | |
| <0.001 | Carcinoma in situ of penis | NA | BeFree | Detail | |
| 0.002 | iron deficiency anemia | NA | GAD | Detail | |
| 0.003 | Malnutrition | NA | LHGDN | Detail | |
| <0.001 | Aortic Aneurysm, Thoracic | NA | BeFree | Detail | |
| <0.001 | teratocarcinoma | NA | BeFree | Detail | |
| 0.120 | Sickle cell-beta-thalassemia | NA | BeFree,ORPHANET | Detail | |
| 0.120 | hemoglobin E disease | NA | ORPHANET | Detail | |
| <0.001 | Anaplastic thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Anemia, severe | NA | BeFree | Detail | |
| <0.001 | Fibrosis, Liver | NA | BeFree | Detail | |
| 0.002 | Dyslipidemias | NA | GAD | Detail | |
| 0.002 | Disease Progression | NA | GAD | Detail | |
| 0.007 | Parasitemia | Current knowledge of the genetic basis of parasitemia levels and IgG levels is r... | BeFree,GAD | 25887595 | Detail |
| 0.003 | Sepsis | NA | LHGDN | Detail | |
| 0.120 | Chloracne | NA | CTD_human | Detail | |
| <0.001 | Renal glomerular disease | NA | BeFree | Detail | |
| 0.002 | Anemia of pregnancy | NA | GAD | Detail | |
| 0.124 | Thalassemia Intermedia | NA | BeFree,CLINVAR | Detail | |
| 0.127 | beta^0^ Thalassemia | β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [f... | BeFree,CLINVAR | 24986053 | Detail |
| 0.244 | Delta-Beta Thalassemia | NA | BeFree,CLINVAR,ORPHANET | Detail | |
| 0.001 | ^A^gamma delta beta^0^ thalassemia | NA | BeFree | Detail | |
| 0.001 | delta-Thalassemia | NA | BeFree | Detail | |
| 0.007 | Hereditary persistence of fetal hemoglobin thalassemia | NA | BeFree | Detail | |
| 0.120 | hemoglobin D disease | NA | ORPHANET | Detail | |
| 0.120 | Hemoglobin SD disease | NA | ORPHANET | Detail | |
| 0.120 | Sickle cell-hemoglobin E disease | NA | ORPHANET | Detail | |
| <0.001 | Iron Overload | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Familial primary pulmonary hypertension | NA | BeFree | Detail | |
| <0.001 | Facial wart | HPV179 and HPV184 type-specific quantitative real-time PCRs were further develop... | BeFree | 25748516 | Detail |
| <0.001 | Alpha thalassemia-2 trait | In addition, co-inheritance of α-thalassemia 2 trait in β-thalassemia/Hb E subje... | BeFree | 25361929 | Detail |
| 0.244 | Beta thalassemia intermedia | The proband, who showed the phenotype of β-thalassemia intermedia (β-TI), was fo... | BeFree,CLINVAR,ORPHANET | 25657036 | Detail |
| 0.120 | Hemoglobin E/beta thalassemia disease | NA | ORPHANET | Detail | |
| <0.001 | Secondary malignant neoplasm of liver | NA | BeFree | Detail | |
| 0.003 | Hepatitis C, Chronic | NA | BeFree,LHGDN | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Thalassemia trait | NA | BeFree | Detail | |
| <0.001 | Acute abdominal pain | NA | BeFree | Detail | |
| <0.001 | Classical phenylketonuria | NA | BeFree | Detail | |
| <0.001 | Spots on skin | β-globin genes: mutation hot-spots in the global thalassemia belt. | BeFree | 25523871 | Detail |
| 0.120 | Sickle cell-beta^+^-thalassemia | NA | BeFree,ORPHANET | Detail | |
| 0.002 | Beta thalassemia minor | NA | BeFree | Detail | |
| <0.001 | BETA THALASSEMIA, HETEROZYGOUS | NA | BeFree | Detail | |
| 0.002 | Beta thalassemia trait | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | Using mRNA expression profiles retrieved from microarrays deposited in the Gene ... | BeFree | 25891226 | Detail |
| 0.005 | alpha^+^ Thalassemia | Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene var... | BeFree | 25222042 | Detail |
| 0.120 | Fetal hemoglobin quantitative trait locus 1 | NA | CLINVAR | Detail | |
| <0.001 | Aural atresia, congenital | NA | BeFree | Detail | |
| <0.001 | S-Beta Thalassemia | NA | BeFree | Detail | |
| <0.001 | Severe beta thalassemia | NA | BeFree | Detail | |
| <0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
| 0.010 | Deficiency of glucose-6-phosphate dehydrogenase | NA | BeFree,GAD | Detail | |
| <0.001 | Dominant thalassemia | NA | BeFree | Detail | |
| <0.001 | Experimental Organism Basal Cell Carcinoma | NA | BeFree | Detail | |
| 0.002 | Albuminuria | NA | GAD | Detail | |
| 0.287 | alpha-Thalassemia | Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene var... | BeFree,CLINVAR,CTD_human,GAD,LHGDN | 25222042 | Detail |
| 0.099 | anemia | Thus, 10% or more expression of the exogenous normal β-globin gene reduces the d... | BeFree,GAD,RGD | 24816238 | Detail |
| 0.099 | anemia | To determine the prevalence of Hb S (HBB: c.20A > T) and anemia in a community o... | BeFree,GAD,RGD | 25707678 | Detail |
| 0.008 | Cooley's anemia | β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [f... | BeFree | 24986053 | Detail |
| 0.008 | Cooley's anemia | We investigated the influence of β-globin gene mutation in patients with β-TM on... | BeFree | 25017762 | Detail |
| 0.122 | Anemia, Hemolytic | Hb Youngstown [β101(G3)Glu → Ala; HBB: c.305A > C]: An unstable hemoglobin varia... | BeFree,CLINVAR | 25347256 | Detail |
| <0.001 | Anemia, Hemolytic, Congenital | NA | BeFree | Detail | |
| 0.002 | hypochromic anemia | NA | GAD | Detail | |
| 0.578 | Anemia, Sickle Cell | Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is wid... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT | 24361300 | Detail |
| 0.578 | Anemia, Sickle Cell | SCD-corrected hiPSC lines showed gene conversion of the mutated βS to the wild-t... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT | 25245091 | Detail |
| 0.578 | Anemia, Sickle Cell | Sickle cell disease (SCD) is characterized by a single point mutation in the sev... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT | 25733580 | Detail |
| 0.578 | Anemia, Sickle Cell | We did not observe any significant associations between HBB haplotype and SCD di... | BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT | 25748438 | Detail |
| 0.578 | Anemia, Sickle Cell | Sickle cell disease (SCD) is caused by genetic defects in the β-globin chain. | BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT | 26296885 | Detail |
| <0.001 | borderline personality disorder | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | bronchopulmonary dysplasia | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| β-globin genes: mutation hot-spots in the global thalassemia belt. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| HER2/HBB and MYC/HBB ratios in tissue and cell-free plasma from gastric cancer patients were signifi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Recent experimental evidence suggest that besides genomic variation within the human β-globin gene c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Using chromatin immunoprecipitation assays, we show that PIAS3 preferentially occupies the β-globin ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in m... | DisGeNET | Detail |
| Current knowledge of the genetic basis of parasitemia levels and IgG levels is reviewed through key ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Significant time-dependent degradation of human DNA in FFPE sample extracts was detected based on pa... | DisGeNET | Detail |
| Using mRNA expression profiles retrieved from microarrays deposited in the Gene Expression Omnibus P... | DisGeNET | Detail |
| Using mRNA expression profiles retrieved from microarrays deposited in the Gene Expression Omnibus P... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| As a basis for developing transgenic induced pluripotent stem cell therapies for thalassemia, β(654)... | DisGeNET | Detail |
| Overall survival was not found to be associated with the β-globin gene mutation status, but thalasse... | DisGeNET | Detail |
| Although the globin genes of the HBB locus are intact, most of these patients suffer thalassemia due... | DisGeNET | Detail |
| Here, we describe a next-generation sequencing (NGS) method that is able to identify and characteriz... | DisGeNET | Detail |
| β-globin genes: mutation hot-spots in the global thalassemia belt. | DisGeNET | Detail |
| A novel promoter mutation (HBB: c.-75G>T) was identified as a cause of β(+)-thalassemia. | DisGeNET | Detail |
| Confirmation of the β-globin gene mutations involved in thalassemia is usually carried out by molecu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Current knowledge of the genetic basis of parasitemia levels and IgG levels is reviewed through key ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| HPV179 and HPV184 type-specific quantitative real-time PCRs were further developed and used in combi... | DisGeNET | Detail |
| In addition, co-inheritance of α-thalassemia 2 trait in β-thalassemia/Hb E subjects was associated w... | DisGeNET | Detail |
| The proband, who showed the phenotype of β-thalassemia intermedia (β-TI), was found to be a compound... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| β-globin genes: mutation hot-spots in the global thalassemia belt. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Using mRNA expression profiles retrieved from microarrays deposited in the Gene Expression Omnibus P... | DisGeNET | Detail |
| Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexis... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexis... | DisGeNET | Detail |
| Thus, 10% or more expression of the exogenous normal β-globin gene reduces the degree of anemia in o... | DisGeNET | Detail |
| To determine the prevalence of Hb S (HBB: c.20A > T) and anemia in a community of people of African ... | DisGeNET | Detail |
| β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS... | DisGeNET | Detail |
| We investigated the influence of β-globin gene mutation in patients with β-TM on the clinical outcom... | DisGeNET | Detail |
| Hb Youngstown [β101(G3)Glu → Ala; HBB: c.305A > C]: An unstable hemoglobin variant causing severe he... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in m... | DisGeNET | Detail |
| SCD-corrected hiPSC lines showed gene conversion of the mutated βS to the wild-type βA in one of the... | DisGeNET | Detail |
| Sickle cell disease (SCD) is characterized by a single point mutation in the seventh codon of the β-... | DisGeNET | Detail |
| We did not observe any significant associations between HBB haplotype and SCD disease course in this... | DisGeNET | Detail |
| Sickle cell disease (SCD) is caused by genetic defects in the β-globin chain. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs63750915 dbSNP
- Genome
- hg19
- Position
- chr11:5,246,694-5,248,427
- Variant Type
- snv
Genome browser