rs16995255

This is a regulatory region variant variant in the RFC1 gene.

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GWAS Catalog Trait Associations (1)

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

reticulocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.01
p 1.0e-9
N 408,112
Large GWAS
European
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Research that mentions this SNP (1)

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Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways
AssociationN=4,648Charlotte A. Hobbs et al.(2014)· Birth Defects Research Part A: Clinical and Molecular Teratology

This case-control study of 616 conotruncal heart defect (CTD) case families and 1,645 control families identified 17 maternal and 17 fetal SNPs associated with CTD risk (BFDP ≤0.80). Key findings included 10 maternal SNPs in GCLC (rs572494 with BFDP=0.15), 4 fetal SNPs in TYMS (rs2612101, rs2847607, rs2847326, rs2847324), and evidence that maternal periconceptional folic acid supplementation modified SNP-CTD associations. The study evaluated 921 SNPs across 60 genes in folate, homocysteine, and transsulfuration pathways.

Traits studied:Conotruncal heart defectsConoventricular septal defectsD-transposition of the great arteriesDouble outlet right ventricleInterrupted aortic arch type BTetralogy of FallotTruncus arteriosus
PubMedDOIMetascience Observatory

About RFC1

This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

View all RFC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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