RS1805009 MC1R
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What This Variant Does
"rs1805009, known as Asp294His or D294H and located in the MC1R gene, is the most common variant asso...
Associated Conditions
Skin/hair/eye pigmentation 2
red hair/fair skin
Tyrosinase-positive oculocutaneous albinism
Skin and Hair Hypopigmentation
Melanoma
cutaneous malignant
susceptibility to
5
MC1R-related disorder
Skin/hair/eye pigmentation 2
red hair/fair skin
Tyrosinase-positive oculocutaneous albinism
Skin and Hair Hypopigmentation
Melanoma
cutaneous malignant
GWAS Studies (9)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Cutaneous malignant melanoma | C | OR: 1.48 | 4E-30 | PubMed |
| Red vs non-red hair color | C | OR: 2.68 | 8E-16 | PubMed |
| Skin colour saturation | — | β: 0.008 | 1E-13 | PubMed |
| Skin phototype score | C | OR: 6.52 | 6E-12 | PubMed |
| Skin color (Fitzpatrick scale) | C | OR: 0.34 | 6E-12 | PubMed |
| Ease of skin tanning | C | OR: 0.39 | 3E-10 | PubMed |
| Skin color | C | OR: 0.35 | 7E-10 | PubMed |
| Melanocyte protein PMEL levels | C | OR: 0.28 | 2E-9 | PubMed |
| Freckles | C | OR: 0.49 | 2E-8 | PubMed |
Other Variants in MC1R