RS11549407 HBB
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What This Variant Does
"[OMIM:?]
Associated Conditions
Beta zero thalassemia
beta Thalassemia
alpha Thalassemia
Hb SS disease
Inborn genetic diseases
Heinz body anemia
Beta-thalassemia HBB/LCRB
Malaria
susceptibility to
HBB-related disorder
8 conditions
Beta zero thalassemia
beta Thalassemia
alpha Thalassemia
Hb SS disease
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| mean corpuscular volume (MCV, maximum, inv-norm transformed) | G | OR: 5.94 | 1E-323 | PubMed |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) | G | OR: 5.92 | 1E-323 | PubMed |
| red blood cell count (RBC, mean, inv-norm transformed) | G | OR: 3.19 | 1E-323 | PubMed |
| mean corpuscular volume (MCV, minimum, inv-norm transformed) | G | OR: 5.26 | 1E-323 | PubMed |
| red blood cell count (RBC, maximum, inv-norm transformed) | G | OR: 3.45 | 1E-323 | PubMed |
| mean corpuscular volume (MCV, mean, inv-norm transformed) | G | OR: 5.87 | 1E-323 | PubMed |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed) | G | OR: 4.92 | 1E-323 | PubMed |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed) | G | OR: 5.79 | 1E-323 | PubMed |
| red cell diameter width (RDW, minimum, inv-norm transformed) | G | OR: 3.43 | 1E-323 | PubMed |
| mean corpuscular hemoglobin (MCH, minimum, inv-norm transformed) | G | OR: 4.14 | 1E-323 | PubMed |
| mean corpuscular hemoglobin (MCH, minimum, inv-norm transformed) | G | OR: 4.78 | 1E-323 | PubMed |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) | G | OR: 5.02 | 1E-323 | PubMed |
| red cell diameter width (RDW, mean, inv-norm transformed) | G | OR: 2.96 | 2E-305 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, mean, inv-norm transformed) | G | OR: 2.73 | 7E-280 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, maximum, inv-norm transformed) | G | OR: 2.63 | 2E-269 | PubMed |
| red blood cell count (RBC, minimum, inv-norm transformed) | G | OR: 2.45 | 4E-251 | PubMed |
| red blood cell count (RBC, maximum, inv-norm transformed) | G | OR: 3.08 | 5E-248 | PubMed |
| red cell diameter width (RDW, minimum, inv-norm transformed) | G | OR: 3.16 | 2E-240 | PubMed |
| red blood cell count (RBC, mean, inv-norm transformed) | G | OR: 2.9 | 4E-235 | PubMed |
| hemoglobin (maximum, inv-norm transformed) | G | OR: 2.37 | 3E-230 | PubMed |
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
0%
1kG AMR
99.9%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in HBB