rs6141600
This is a downstream gene variant variant in the EPB41L1 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.04
p 1.0e-300
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele C
OR 1.21
p 6.0e-12
N 16,196
Meta-analysisLarge GWAS
European
appendicular lean mass
Hernandez Cordero AI et al. “Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.” American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele C
OR 0.07
p 7.0e-11
N 85,750
Large GWAS
European
hip circumference
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.03
p 1.0e-9
N 143,480
Large GWAS
multi-ancestry
BMI-adjusted waist circumference
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.02
p 5.0e-9
N 219,872
Major Consortium StudyLarge GWAS
European
atrial fibrillation
Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele T
OR 0.02
p 4.0e-10
N 2,584,013
Large GWAS
multi-ancestry
BMI-adjusted hip circumference
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.02
p 2.0e-8
N 219,872
Major Consortium StudyLarge GWAS
European
About EPB41L1
Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
View all EPB41L1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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