rs60722298

This variant is located in the HERC6 gene.

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GWAS Catalog Trait Associations (1)

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

level of Ethyl 2-ethylhexanoate in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele A

OR 1.24

p 2.0e-15

N 1,740

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

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About HERC6

HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

View all HERC6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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