rs187429064
This is a protein-altering variant in the TM6SF2 gene.
▶GWAS Catalog Trait Associations (40)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (40)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 G
OR —
p 4.0e-40
N 239,268
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.20
p 6.0e-22
N 88,268
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 G
OR —
p 5.0e-22
N 239,268
Large GWAS
European
oleoyl-arachidonoyl-glycerol (18:1/20:4) [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 G
OR 0.38
p 7.0e-20
N 6,136
Large GWAS
European
level of eukaryotic-type beta-galactosidase 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 G
OR 0.19
p 2.0e-16
N 47,745
Large GWAS
European
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 G
OR —
p 2.0e-15
N 239,268
Large GWAS
European
1-myristoyl-2-arachidonoyl-GPC (14:0/20:4) 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 G
OR 0.31
p 3.0e-14
N 6,136
Large GWAS
European
level of Ceramide (d42:2) in blood serum
Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele G
OR 0.29
p 3.0e-14
N 7,173
Large GWAS
European
Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele G
OR 0.28
p 1.0e-8
N 4,642
Large GWAS
European
level of Phosphatidylcholine (18:1_20:4) in blood serum
Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele G
OR 0.28
p 3.0e-13
N 7,173
Large GWAS
European
Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele G
OR 0.38
p 8.0e-9
N 2,624
Large GWAS
European
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 G
OR —
p 6.0e-13
N 128,922
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 G
OR 0.16
p 1.0e-12
N 47,745
Large GWAS
European
About TM6SF2
Enables identical protein binding activity. Involved in regulation of lipid metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all TM6SF2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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