rs56030650
This is a protein-altering variant in the GSDMA 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.
adipose amount
Ahmed A et al. “MRI-Based Genetic Studies Reveal Specific Genetic Variants and Disease Risks Associated With Fat Distribution Across Anatomical Sites.” Journal of Obesity 2025:7792701 (2025)
Allele C
OR 0.05
p 9.0e-17
N 37,589
Large GWAS
European
level of phosphatidylcholine
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele A
OR 0.06
p 2.0e-11
N 13,814
Large GWAS
European
About GSDMA
Enables wide pore channel activity. Involved in defense response to bacterium and pyroptotic inflammatory response. Located in perinuclear region of cytoplasm. Is active in membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all GSDMA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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