rs1935451
This variant is located in the UROS 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.
uroporphyrinogen-III synthase measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.34
p 4.0e-53
N 10,708
Large GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout UROS
The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]
View all UROS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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