rs61742642

This is a variant in the ESRRB gene that changes a proline to an serine.

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GWAS Catalog Trait Associations (1)

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

cerebellar volume measurement

Moberget T et al. “The genetic architecture of human cerebellar morphology supports a key role for the cerebellum in human evolution and psychopathology.” Communications Biology 9(1) (2026)

Allele T

OR —

p 3.0e-40

N 27,302

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

9 submitters4 publications

Autosomal recessive nonsyndromic hearing loss 35; not specified

View on ClinVar →

About ESRRB

This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]

View all ESRRB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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