rs12931267

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.

basal cell carcinoma

Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele G
OR 1.33
p 1.0e-121
N 812,765
Meta-analysisLarge GWAS
multi-ancestry

freckles

Eriksson N et al. “Web-based, participant-driven studies yield novel genetic associations for common traits.” Plos Genetics 6(6):e1000993 (2010)
Allele G
OR 1.88
p 8.0e-62
N 9,126
Large GWAS
European

skin sensitivity to sun

Liu F et al. “Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.” Human Genetics 134(8):823-35 (2015)
Allele G
OR 0.44
p 8.0e-23
N 2,668
Large GWAS
European

hair color

Lona-Durazo F et al. “A large Canadian cohort provides insights into the genetic architecture of human hair colour.” Communications Biology 4(1):1253 (2021)
Allele G
OR 4.25
p 2.0e-82
N 10,450
Large GWAS
European
Eriksson N et al. “Web-based, participant-driven studies yield novel genetic associations for common traits.” Plos Genetics 6(6):e1000993 (2010)
Allele G
OR 0.56
p 3.0e-10
N 9,126
Large GWAS
European
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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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