RS1426654 MYEF2
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What This Variant Does
"This SNP influences skin pigmentation. The allele, A111T, rs1426654(A), indicates light-skinned West...
Associated Conditions
Skin/hair/eye pigmentation
variation in
4
Skin/hair/eye pigmentation
variation in
4
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Skin, hair and eye pigmentation (multivariate analysis) | — | — | 4E-150 | PubMed |
| Skin pigmentation | — | — | 2E-130 | PubMed |
| Eye color (brightness) | — | — | 8E-50 | PubMed |
| Benign neoplasm of eye, uveal (PheCode 224.1) | A | OR: 0.55 | 4E-49 | PubMed |
| Eye color (saturation) | — | — | 6E-45 | PubMed |
| Benign neoplasm of eye (PheCode 224) | A | OR: 0.44 | 1E-39 | PubMed |
| Skin reflectance (Melanin index) | G | OR: 0.7 | 3E-39 | PubMed |
| Skin pigmentation | G | OR: 0.4 | 6E-39 | PubMed |
| Actinic keratosis (PheCode 702.1) | A | OR: 0.45 | 8E-37 | PubMed |
| Eye color | — | — | 1E-26 | PubMed |
| Eye color | G | OR: 0.68 | 3E-26 | PubMed |
| Actinic keratosis (PheCode 702.1) | A | OR: 0.49 | 4E-25 | PubMed |
| Benign neoplasm of eye, uveal (PheCode 224.1) | A | OR: 0.59 | 2E-24 | PubMed |
| Skin cancer | A | OR: 0.5 | 7E-24 | PubMed |
| Actinic keratosis (PheCode 702.1) | A | OR: 0.45 | 9E-23 | PubMed |
| Degenerative skin conditions and other dermatoses (PheCode 702) | A | OR: 0.18 | 5E-22 | PubMed |
| Skin cancer | A | OR: 0.3 | 6E-22 | PubMed |
| Other non-epithelial cancer of skin (PheCode 172.2) | A | OR: 0.5 | 1E-19 | PubMed |
| Hair color | — | — | 1E-18 | PubMed |
| Benign neoplasm of eye (PheCode 224) | A | OR: 0.43 | 1E-18 | PubMed |
Population Frequencies
gnomAD ALL
8.1%
1kG AFR
7.4%
1kG ALL
56.2%
1kG AMR
41.1%
1kG EAS
98.8%
1kG EUR
0.3%
1kG SAS
68.5%