rs7775698
This is a regulatory region variant variant.
▶GWAS Catalog Trait Associations (23)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (23)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
erythrocyte volume
Thompson A et al. “Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.” Human Molecular Genetics 30(21):2040-2051 (2021)
Allele C
OR —
β 0.730
p —
N 362,595
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.19
p 4.0e-225
N 408,112
Large GWAS
European
Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele C
OR 0.19
p 3.0e-56
N 14,364
Large GWAS
East Asian
Li J et al. “GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.” Human Molecular Genetics 22(7):1457-64 (2013)
Allele C
OR 0.54
p 2.0e-9
N 14,177
Large GWAS
multi-ancestry
Ferreira MA et al. “Sequence variants in three loci influence monocyte counts and erythrocyte volume.” American Journal of Human Genetics 85(5):745-9 (2009)
Allele C
OR 0.19
p 8.0e-18
N 6,015
Large GWAS
European
Red cell distribution width
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR —
p —
N 563,352
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.12
p —
N 408,112
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.11
p 2.0e-299
N 380,796
Major Consortium StudyLarge GWAS
European
Pilling LC et al. “Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.” Plos One 12(9):e0185083 (2017)
Allele C
OR 0.10
p 1.0e-108
N 116,666
Large GWAS
European
mean corpuscular hemoglobin concentration
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.10
p 3.0e-285
N 407,301
Major Consortium StudyLarge GWAS
European
mean corpuscular hemoglobin
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.22
p 1.0e-279
N 408,112
Large GWAS
European
Li J et al. “GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.” Human Molecular Genetics 22(7):1457-64 (2013)
Allele T
OR 0.25
p 4.0e-13
N 14,177
Large GWAS
multi-ancestry
Ferreira MA et al. “Sequence variants in three loci influence monocyte counts and erythrocyte volume.” American Journal of Human Genetics 85(5):745-9 (2009)
Allele T
OR 0.19
p 5.0e-13
N 6,015
Large GWAS
European
Kullo IJ et al. “A genome-wide association study of red blood cell traits using the electronic medical record.” Plos One 5(9) (2010)
Allele T
OR 0.38
p 1.0e-15
N 3,012
Large GWAS
European
erythrocyte count
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.18
p 3.0e-178
N 408,112
Large GWAS
European
Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele T
OR 0.18
p 7.0e-48
N 14,392
Large GWAS
East Asian
Kullo IJ et al. “A genome-wide association study of red blood cell traits using the electronic medical record.” Plos One 5(9) (2010)
Allele T
OR 0.09
p 1.0e-14
N 3,012
Large GWAS
European
hemoglobin measurement
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.07
p 2.0e-106
N 408,112
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.04
p 1.0e-57
N 407,894
Major Consortium StudyLarge GWAS
European
Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)
Allele T
OR —
β 0.052
p 2.0e-43
N 52,141
Large GWAS
European
leukocyte quantity
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.05
p 3.0e-80
N 408,112
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.04
p 3.0e-33
N 545,235
Major Consortium StudyLarge GWAS
multi-ancestry
BPI fold-containing family B member 1 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.09
p 4.0e-76
N 47,745
Large GWAS
European
hemoglobin measurement, mean corpuscular hemoglobin
Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele T
OR 0.21
p 3.0e-66
N 14,362
Large GWAS
East Asian
neutrophil count
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 1.0e-40
N 275,068
Major Consortium StudyLarge GWAS
European
▶Research that mentions this SNP (1)
▶A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin EAssociationN=792Manit Nuinoon et al.(2010)· Human Genetics
A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E
AssociationN=792Manit Nuinoon et al.(2010)· Human Genetics
A genome-wide association study identified 23 SNPs in three independent regions significantly associated with disease severity in β0-thalassemia/hemoglobin E disease. The strongest associations were with rs2071348 in the β-globin cluster (P = 2.96 × 10⁻¹³, OR = 4.33), rs9376092 in HBS1L-MYB intergenic region (P = 2.36 × 10⁻¹⁰, OR = 3.07), and rs766432 in BCL11A (P = 5.87 × 10⁻¹⁰, OR = 3.06). These genetic variants influence fetal hemoglobin levels, a major disease severity modifier, and findings were replicated in an independent Indonesian cohort.
Traits studied:Erythrocyte countFetal hemoglobin (HbF) levelsHbA2 levelHbE levelHemoglobin levelMonocyte countPlatelet countβ0-thalassemia/hemoglobin E disease severity
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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