| 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 |
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 |
