rs3743860

This is a intron variant variant in the FANCA gene.

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GWAS Catalog Trait Associations (5)

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

intraocular pressure measurement

Khawaja AP et al. “Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.” Nature Genetics 50(6):778-782 (2018)
Allele T
OR 0.10
p 4.0e-15
N 139,555
Large GWAS
European
Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele T
OR 0.11
p 2.0e-14
N 115,486
Large GWAS
European
Han X et al. “Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.” Jama Ophthalmology 138(6):671-678 (2020)
Allele T
OR 0.10
p 9.0e-11
N 101,939
Major Consortium StudyLarge GWAS
European

reticulocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 3.0e-14
N 394,642
Large GWAS
European

reticulocyte amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 7.0e-13
N 394,642
Large GWAS
European

glycoprotein 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 0.01
p 8.0e-11
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About FANCA

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]

View all FANCA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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