rs6657819

This is a intron variant variant in the PTGFRN gene.

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GWAS Catalog Trait Associations (1)

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

type 2 diabetes mellitus

Huerta-Chagoya A et al. “Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.” Nature Genetics 56(11):2370-2379 (2024)

Allele G

OR 0.07

p 4.0e-17

N 421,743

Large GWAS

multi-ancestry

About PTGFRN

Predicted to be involved in myoblast fusion involved in skeletal muscle regeneration. Predicted to act upstream of or within lipid droplet organization. Located in cell surface. [provided by Alliance of Genome Resources, Jul 2025]

View all PTGFRN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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