rs41274050

This variant is located in the A1CF gene.

GWAS Catalog Trait Associations (23)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

triglyceride measurement

Allele T
OR 0.15
p 1.0e-32
N 928,679
Large GWAS
multi-ancestry
Allele T
OR 0.09
p 3.0e-19
N 1,320,016
Large GWAS
European
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.12
p 4.0e-23
N 455,659
Large GWAS
multi-ancestry
Allele T
OR 0.10
p 6.0e-28
N 394,642
Large GWAS
European
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 0.11
p 2.0e-14
N 391,797
Major Consortium StudyLarge GWAS
European
Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.13
p 2.0e-25
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry
Allele T
OR 0.09
p 4.0e-9
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
Liu DJ et al. Exome-wide association study of plasma lipids in >300,000 individuals. Nature Genetics 49(12):1758-1766 (2017)
Allele T
OR
β 0.097
p 4.0e-9
N 237,050
Large GWAS
European

apolipoprotein B measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.12
p 7.0e-23
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Allele T
OR 0.08
p 1.0e-17
N 1,320,016
Large GWAS
European
Allele T
OR 0.09
p 1.0e-13
N 928,679
Large GWAS
multi-ancestry
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 0.10
p 3.0e-11
N 570,549
Major Consortium StudyLarge GWAS
multi-ancestry
Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.09
p 3.0e-14
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
Allele T
OR 0.11
p 6.0e-13
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Allele T
OR 0.07
p 5.0e-15
N 1,320,016
Large GWAS
European
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.07
p 5.0e-9
N 416,487
Large GWAS
multi-ancestry
Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.09
p 1.0e-14
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry
Allele T
OR 0.09
p 6.0e-10
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry

non-high density lipoprotein cholesterol measurement

Allele T
OR 0.08
p 2.0e-14
N 1,320,016
Large GWAS
European

serum gamma-glutamyl transferase measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.09
p 2.0e-13
N 355,690
Major Consortium StudyLarge GWAS
multi-ancestry

gamma-glutamyl hydrolase measurement

Allele T
OR 0.17
p 1.0e-11
N 47,745
Large GWAS
European

ClinVar annotation

Likely Benign★★★
2 submitters2 publications
View on ClinVar →

About A1CF

Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

View all A1CF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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