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What This Variant Does
"This position causes sickle cell anemia
Associated Conditions
HEMOGLOBIN S
Hb SS disease
Malaria
resistance to
Inborn genetic diseases
beta Thalassemia
6 conditions
Fetal hemoglobin quantitative trait locus 1
9 conditions
See cases
Beta-thalassemia HBB/LCRB
HBB-related disorder
Sickle cell-hemoglobin C disease
susceptibility to
8 conditions
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Hereditary hemolytic anemias (PheCode 282) | T | OR: 2.24 | 1E-323 | PubMed |
| hematocrit (maximum, inv-norm transformed) | T | OR: 0.26 | 9E-131 | PubMed |
| hematocrit (maximum, inv-norm transformed) | T | OR: 0.26 | 3E-118 | PubMed |
| hematocrit (mean, inv-norm transformed) | T | OR: 0.23 | 2E-113 | PubMed |
| hematocrit (mean, inv-norm transformed) | T | OR: 0.23 | 2E-103 | PubMed |
| Sodium (mean, inv-norm transformed) | T | OR: 0.22 | 2E-88 | PubMed |
| Hemoglobin A1c (HbA1c, minimum, inv-norm transformed) | T | OR: 0.24 | 9E-85 | PubMed |
| lymphocyte (fraction, mean, inv-norm transformed) | T | OR: 0.25 | 8E-83 | PubMed |
| lymphocyte (fraction, maximum, inv-norm transformed) | T | OR: 0.24 | 5E-80 | PubMed |
| hematocrit (minimum, inv-norm transformed) | T | OR: 0.19 | 6E-80 | PubMed |
| Sodium (mean, inv-norm transformed) | T | OR: 0.21 | 8E-78 | PubMed |
| hematocrit (minimum, inv-norm transformed) | T | OR: 0.19 | 8E-76 | PubMed |
| Hemoglobin A1c (HbA1c, minimum, inv-norm transformed) | T | OR: 0.24 | 1E-73 | PubMed |
| lymphocyte (fraction, mean, inv-norm transformed) | T | OR: 0.26 | 9E-72 | PubMed |
| lymphocyte (fraction, maximum, inv-norm transformed) | T | OR: 0.24 | 2E-68 | PubMed |
| sodium (maximum, inv-norm transformed) | T | OR: 0.18 | 4E-68 | PubMed |
| Malaria | — | OR: 1.39 | 2E-67 | PubMed |
| lymphocyte (absolute count, mean, inv-norm transformed) | T | OR: 0.23 | 5E-66 | PubMed |
| Hemoglobin A1c (HbA1c, mean, inv-norm transformed) | T | OR: 0.21 | 3E-65 | PubMed |
| sodium (maximum, inv-norm transformed) | T | OR: 0.18 | 1E-63 | PubMed |
Other Variants in HBB;LOC106099062;LOC107133510