rs59015798

This is a intron variant variant in the NF1 gene.

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GWAS Catalog Trait Associations (2)

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

testosterone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele A
OR 0.03
p 4.0e-21
N 243,951
Large GWAS
European, South Asian

osteoarthritis, hip, total hip arthroplasty

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele A
OR 1.06
p 6.0e-10
N 1,031,046
Large GWAS
multi-ancestry

About NF1

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

View all NF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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