rs2576452
This is a regulatory region variant variant in the TMC4 gene.
▶GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
1-palmitoyl-2-oleoyl-GPI (16:0/18:1) measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR 0.27
p 2.0e-46
N 6,136
Large GWAS
European
arachidonate 20:4n6-to-1-arachidonoylglycerophosphoinositol ratio
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.03
p 2.0e-29
N 5,586
Large GWAS
European
1-palmitoleoyl-GPI (16:1) measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR 0.24
p 4.0e-28
N 6,136
Large GWAS
European
docosahexaenoic acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 3.0e-23
N 239,268
Large GWAS
European
level of carboxylesterase 3 in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.05
p 2.0e-22
N 47,745
Large GWAS
European
omega-3 polyunsaturated fatty acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 4.0e-19
N 239,268
Large GWAS
European
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele T
OR 0.02
p 5.0e-9
N 115,006
Large GWAS
European
level of liver carboxylesterase 1 in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 1.0e-16
N 47,745
Large GWAS
European
level of phosphatidylinositol
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele T
OR 0.17
p 1.0e-13
N 4,492
Large GWAS
European
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 T
OR 0.09
p 7.0e-13
N 5,662
Large GWAS
South Asian
phosphatidate measurement
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 T
OR 0.19
p 7.0e-13
N 5,662
Large GWAS
South Asian
docosahexaenoic acid to total fatty acids percentage
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 5.0e-12
N 128,922
Large GWAS
European
About TMC4
Enables voltage-gated chloride channel activity. Predicted to be involved in sensory perception of salty taste. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
View all TMC4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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