rs540730
▶GWAS Catalog Trait Associations (34)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (34)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
sex hormone-binding globulin measurement
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele T
OR 0.02
p 2.0e-48
N 180,094
Large GWAS
European
Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele T
OR 0.76
p 1.0e-16
N 148,248
Major Consortium StudyLarge GWAS
European
aspartate aminotransferase measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.03
p 2.0e-33
N 493,058
Large GWAS
multi-ancestry
serum creatinine amount
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.03
p 2.0e-28
N 421,910
Major Consortium StudyLarge GWAS
European
testosterone measurement
Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele T
OR 0.03
p 1.0e-22
N 235,096
Large GWAS
European
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele T
OR 0.03
p 4.0e-19
N 194,453
Large GWAS
European
hemoglobin measurement
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 0.02
p 3.0e-22
N 563,946
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 6.0e-19
N 408,112
Large GWAS
European
alcohol drinking, high density lipoprotein cholesterol measurement
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR —
p 1.0e-20
N 127,326
Large GWAS
multi-ancestry
cholesterol in chylomicrons and extremely large VLDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-20
N 450,015
Large GWAS
multi-ancestry
free cholesterol in chylomicrons and extremely large VLDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-20
N 450,015
Large GWAS
multi-ancestry
blood protein amount
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.18
p 2.0e-20
N 5,364
Large GWAS
European
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 3.0e-12
N 47,745
Large GWAS
European
phospholipids in chylomicrons and extremely large VLDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-20
N 450,015
Large GWAS
multi-ancestry
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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