rs1422798

This is a intron variant variant in the EBF1 gene.

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GWAS Catalog Trait Associations (2)

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

alopecia

Hagenaars SP et al. “Genetic prediction of male pattern baldness.” Plos Genetics 13(2):e1006594 (2017)

Allele G

OR —

β 0.091

p 3.0e-46

N 52,874

Large GWAS

European

androgenetic alopecia

Pirastu N et al. “GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.” Nature Communications 8(1):1584 (2017)

Allele C

OR 0.20

p 2.0e-44

N 43,590

Large GWAS

European

About EBF1

Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of DNA-templated transcription. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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