rs624307
This is a protein-altering variant in the FRMD8 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
N6,N6,N6-trimethyllysine measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.64
p 2.0e-23
N 9,183
Large GWAS
multi-ancestry
butyrobetaine measurement
Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele C
OR 0.42
p 8.0e-14
N 2,466
Large GWAS
multi-ancestry
serum metabolite level
Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele T
OR 0.63
p 1.0e-13
N 3,926
Large GWAS
multi-ancestry
glomerular filtration rate
Hughes O et al. “Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas.” Cell Genomics 4(1):100468 (2024)
Allele C
OR 5.95
p 3.0e-9
N 145,732
Large GWAS
multi-ancestry
About FRMD8
Involved in positive regulation of tumor necrosis factor production. Located in several cellular components, including centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all FRMD8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…