rs7329174
This is a regulatory region variant variant in the ELF1 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.
body height
Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele G
OR 0.02
p 8.0e-26
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
Crohn's disease
Yamazaki K et al. “A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.” Gastroenterology 144(4):781-8 (2013)
Allele G
OR 1.27
p 8.0e-9
N 3,761
Large GWAS
East Asian
systemic lupus erythematosus
Yang J et al. “ELF1 is associated with systemic lupus erythematosus in Asian populations.” Human Molecular Genetics 20(3):601-7 (2011)
Allele G
OR 1.26
p 1.0e-8
N 1,772
Large GWAS
multi-ancestry
About ELF1
This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
View all ELF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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