rs9494145

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (4)

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

erythrocyte volume

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 C
OR 0.98
p 3.0e-15
N 3,012
Large GWAS
European

platelet component distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 7.0e-15
N 408,112
Large GWAS
European

platelet count

Qayyum R et al. “A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.” Plos Genetics 8(3):e1002491 (2012)
Allele T
OR 8.19
p 3.0e-9
N 16,388
Meta-analysisLarge GWAS
African American or Afro-Caribbean
Schick UM et al. “Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.” American Journal of Human Genetics 98(2):229-42 (2016)
Allele T
OR 5.88
p 4.0e-8
N 12,491
Large GWAS
Hispanic or Latin American
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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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