rs2264750
This variant is located in the C12orf43 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.
blood urea nitrogen amount
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele T
OR 0.01
p 6.0e-20
N 416,178
Large GWAS
European, NR
platelet count
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 C
OR 0.03
p 4.0e-15
N 583,459
Major Consortium StudyLarge GWAS
multi-ancestry
total cholesterol measurement
Surakka I et al. “The impact of low-frequency and rare variants on lipid levels.” Nature Genetics 47(6):589-97 (2015)
Allele T
OR 0.04
p 7.0e-11
N 62,166
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele T
OR —
β 0.029
p 4.0e-9
N 94,674
Large GWAS
multi-ancestry
low density lipoprotein cholesterol measurement
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele C
OR —
β 0.032
p 6.0e-10
N 94,674
Large GWAS
multi-ancestry
About C12orf43
Predicted to be involved in Spemann organizer formation and negative regulation of Wnt signaling pathway. Predicted to be located in nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]
View all C12orf43 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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