RS11547464 MC1R
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What This Variant Does
"This missense mutation influences red hair color and has been observed in the Spanish maternal ances...
Associated Conditions
Melanoma
cutaneous malignant
susceptibility to
5
Melanoma
cutaneous malignant
susceptibility to
5
GWAS Studies (6)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Red vs. brown/black hair color | A | OR: 37.62 | 2E-308 | PubMed |
| Hair colour (natural, before greying): Red (UKB data field 1747_2) | A | OR: 2.39 | 7E-228 | PubMed |
| Blond vs. brown/black hair color | A | OR: 1.9 | 3E-50 | PubMed |
| Hair colour (natural, before greying): Dark brown (UKB data field 1747_4) | A | OR: 0.39 | 3E-50 | PubMed |
| Skin reflectance | C | β: 0.006 | 2E-9 | PubMed |
| Brown vs. black hair color | A | OR: 1.7 | 7E-9 | PubMed |
Population Frequencies
gnomAD ALL
99.4%
1kG AFR
0.1%
1kG ALL
0.3%
1kG AMR
0.6%
1kG EAS
100%
1kG EUR
99.1%
1kG SAS
100%
Other Variants in MC1R