freckling Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. (Human Phenotype Ontology, HP_0001480)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0001480
Similar Terms
Downloads & Tools

Genes

6 genes associated with the freckling phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 2.97858
IRF4 interferon regulatory factor 4 2.93898
FANCA Fanconi anemia, complementation group A 2.67273
EIF6 eukaryotic translation initiation factor 6 1.65004
TYR tyrosinase 1.48419
BNC2 basonuclin 2 1.38847