rs9376092

This is a upstream gene variant variant in the LOC105378010 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

hemoglobin measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.15
p 1.0e-80
N 38,553
Large GWAS
European

eosinophil 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 0.04
p 3.0e-38
N 447,366
Major Consortium StudyLarge GWAS
multi-ancestry

serum iron amount

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 0.04
p 1.0e-20
N 127,496
Major Consortium StudyLarge GWAS
multi-ancestry

transferrin saturation measurement

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 3.0e-19
N 81,091
Major Consortium StudyLarge GWAS
multi-ancestry

Thrombocytopenia

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele A
OR 0.80
p 3.0e-18
N 96,432
Large GWAS
East Asian
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Research that mentions this SNP (1)

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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
PubMedDOIMetascience Observatory

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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