rs73227498
This is a intron variant variant in the EPB41L4A gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
nodular goiter, thyroid carcinoma
White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele T
OR 0.22
p 3.0e-34
N 37,995
Large GWAS
European
thyroid carcinoma
White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele T
OR 0.23
p 3.0e-34
N 2,106,366
Large GWAS
European
Gudmundsson J et al. “A genome-wide association study yields five novel thyroid cancer risk loci.” Nature Communications 8:14517 (2017)
Allele T
OR 1.37
p 3.0e-10
N 290,551
Large GWAS
European
thyroid cancer
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele T
OR 0.25
p 1.0e-18
N 1,620,354
Meta-analysisLarge GWAS
multi-ancestry
About EPB41L4A
The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]
View all EPB41L4A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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