rs1211375

This variant is located in the LUC7L gene.

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GWAS Catalog Trait Associations (5)

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

mean corpuscular hemoglobin

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 A
OR 0.21
p 3.0e-17
N 14,177
Large GWAS
multi-ancestry

erythrocyte volume

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 A
OR 0.53
p 1.0e-16
N 14,177
Large GWAS
multi-ancestry

erythrocyte count

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 A
OR 0.04
p 7.0e-14
N 14,177
Large GWAS
multi-ancestry

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 6.0e-10
N 1,122,049
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans
AssociationN=30,551Ken Sin Lo et al.(2011)· Human Genetics

Genetic association study in 23,439 Caucasians and 7,112 African Americans identified novel loci modulating hematological traits. G6PD rs1050828 (Val68Met) shows strong association with red blood cell count, hemoglobin, hematocrit, and mean corpuscular volume in African Americans (P < 2.0 × 10^−13), while TPM4 rs8109288 associates with platelet count in both Caucasians and African Americans (P = 3.0 × 10^−7). HBA2-HBA1 rs1211375 associates with red blood cell traits specifically in African Americans (P < 7 × 10^−8). Study replicated 36 previously reported associations and highlights ethnic differences in genetic architecture of blood traits.

Traits studied:Basophil countEosinophil countHematocritHemoglobinLymphocyte countMean corpuscular hemoglobinMean corpuscular hemoglobin concentrationMean corpuscular volumeMean platelet volumeMonocyte countNeutrophil countPlatelet countRed blood cell countWhite blood cell count
PubMedDOIMetascience Observatory

About LUC7L

The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]

View all LUC7L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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