rs13056435
This is a regulatory region variant variant in the RFPL1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
heel bone mineral density
Kemp JP et al. “Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis.” Nature Genetics 49(10):1468-1475 (2017)
Allele C
OR 0.05
p 2.0e-14
N 142,487
Large GWAS
European
About RFPL1
Predicted to enable ubiquitin protein ligase activity. Involved in negative regulation of G2/M transition of mitotic cell cycle and positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all RFPL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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