rs965480
This is a downstream gene variant variant in the HMG20A gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
type 2 diabetes mellitus
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.09
p 7.0e-22
N 177,415
Large GWAS
East Asian
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele G
OR 1.07
p 2.0e-15
N 210,865
Large GWAS
East Asian
Drugs used in diabetes use measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.07
p 7.0e-12
N 178,726
Large GWAS
East Asian
axial length measurement
Fuse N et al. “Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan: The Tohoku Medical Megabank Organization Eye Study.” Ophthalmology Science 2(1):100113 (2022)
Allele G
OR 0.04
p 5.0e-8
N 33,483
Large GWAS
East Asian
About HMG20A
Enables identical protein binding activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within negative regulation of neuron differentiation; negative regulation of protein sumoylation; and negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
View all HMG20A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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