RS12350739 Unknown gene
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What This Variant Does
"Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene"
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| KIT protein levels | A | OR: 0.11 | 4E-109 | PubMed |
| Actinic keratosis (PheCode 702.1) | G | OR: 0.11 | 1E-95 | PubMed |
| Hair color | — | — | 3E-93 | PubMed |
| Skin cancer | G | β: 0.095 | 1E-69 | PubMed |
| Other non-epithelial cancer of skin (PheCode 172.2) | G | OR: 0.1 | 2E-65 | PubMed |
| Actinic keratosis (PheCode 702.1) | G | OR: 0.11 | 2E-56 | PubMed |
| Sunburns | — | — | 4E-53 | PubMed |
| Hair color | A | β: 0.038 | 2E-44 | PubMed |
| Other non-epithelial cancer of skin (PheCode 172.2) | G | OR: 0.1 | 5E-43 | PubMed |
| Skin cancer | G | β: 0.092 | 1E-40 | PubMed |
| Blond vs. brown/black hair color | — | OR: 1.1 | 1E-32 | PubMed |
| Youthful appearance (self-reported) | G | OR: 1.05 | 1E-30 | PubMed |
| Degenerative skin conditions and other dermatoses (PheCode 702) | G | β: 0.066 | 8E-30 | PubMed |
| Skin reflectance | A | β: 0.006 | 3E-27 | PubMed |
| Squamous cell carcinoma (PheCode 172.22) | G | OR: 0.11 | 3E-26 | PubMed |
| Actinic keratosis | G | OR: 0.88 | 6E-26 | PubMed |
| Squamous cell carcinoma (PheCode 172.22) | G | OR: 0.11 | 5E-22 | PubMed |
| High light scatter reticulocyte count | A | β: 0.021 | 1E-19 | PubMed |
| Brown vs. black hair color | — | OR: 1.12 | 1E-18 | PubMed |
| High light scatter reticulocyte count (UKB data field 30300) | A | β: 0.017 | 4E-18 | PubMed |