rs112463197

This is a regulatory region variant variant in the TMEM120A gene.

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GWAS Catalog Trait Associations (3)

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

platelet volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR 0.03

p 3.0e-34

N 460,935

Large GWAS

European

phospholipids:total lipids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.02

p 9.0e-14

N 450,015

Large GWAS

multi-ancestry

sarcoidosis

Meguro A et al. “Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.” Communications Biology 3(1):465 (2020)

Allele T

OR 1.37

p 1.0e-10

N 1,532

Large GWAS

multi-ancestry

About TMEM120A

Enables coenzyme A binding activity. Involved in antiviral innate immune response; fat cell differentiation; and protein complex oligomerization. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all TMEM120A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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