rs11245344
This is a intron variant variant in the FAM53B 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.
glomerular filtration rate
Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele T
OR 11.99
p 4.0e-33
N 1,508,659
Large GWAS
multi-ancestry
Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)
Allele T
OR 6.63
p 3.0e-11
N 350,514
Meta-analysisLarge GWAS
multi-ancestry
neuroimaging measurement
Bhatt RR et al. “The Genetic Architecture of the Human Corpus Callosum and its Subregions.” Nature Communications 16(1):9708 (2025)
Allele T
OR 0.11
p 6.0e-22
N 46,685
Large GWAS
European
brain volume
Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele T
OR 0.06
p 1.0e-9
N 21,282
Major Consortium StudyLarge GWAS
European
About FAM53B
Involved in positive regulation of canonical Wnt signaling pathway. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
View all FAM53B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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