rs4647558

This variant is located in the FANCC gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Fanconi anemia complementation group C; not provided

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Research that mentions this SNP (1)

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Genetic and Environmental Factors in Conjunctival UV Autofluorescence
AssociationN=1,251Seyhan Yazar et al.(2015)· JAMA Ophthalmology

This genome-wide association study of 1,251 Australian participants across three cohorts identified rs1060043 as significantly associated with conjunctival UV autofluorescence (CUVAF), a biomarker of ocular sun damage. The SNP is located 800 bp upstream of SLC1A5 and shows an effect size of 11.34 mm² per copy. Twin study analysis revealed that additive genetic factors explain 37% and common environmental factors explain 50% of CUVAF variation.

Traits studied:Conjunctival UV autofluorescence (CUVAF)Ocular sun damagePterygium
PubMedDOIMetascience Observatory

About FANCC

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 C. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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