rs2074304
This variant is located in the TM6SF2 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
total cholesterol measurement
Petty LE et al. “Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits.” Nature Communications 16(1):3438 (2025)
Allele G
OR 0.19
p 8.0e-36
N 62,209
Large GWAS
Hispanic or Latin American
triglyceride measurement, depressive symptom measurement
Bentley AR et al. “Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.” Translational Psychiatry 15(1):207 (2025)
Allele C
OR —
β 0.005
p 8.0e-20
N 15,949
Large GWAS
Hispanic or Latin American
social deprivation, triglyceride measurement
Bentley AR et al. “Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.” Translational Psychiatry 15(1):207 (2025)
Allele C
OR —
β 0.029
p 2.0e-14
N 15,949
Large GWAS
Hispanic or Latin American
serum metabolite level
Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele C
OR 0.33
p 1.0e-10
N 3,926
Large GWAS
Hispanic or Latin American
▶ClinVar annotation
Benign★★★☆
3 submitters2 publicationsnot provided; Gastric cancer; Hepatocellular carcinoma; Cervical cancer; Sarcoma
View on ClinVar →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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