rs76015112
This is a protein-altering variant in the RPTN gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Mastocytosis
Nedoszytko B et al. “Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.” International Journal of Molecular Sciences 21(15) (2020)
Allele G
OR —
β 0.296
p 8.0e-12
N 5,840
Large GWAS
European
cutaneous mastocytosis
Nedoszytko B et al. “Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.” International Journal of Molecular Sciences 21(15) (2020)
Allele G
OR —
p 4.0e-9
N 5,684
Large GWAS
European
About RPTN
Predicted to enable calcium ion binding activity and transition metal ion binding activity. Predicted to be located in cytosol. Predicted to be active in cornified envelope. [provided by Alliance of Genome Resources, Jul 2025]
View all RPTN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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