RS121918166 OCA2
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What This Variant Does
"[OMIM:?]
Associated Conditions
Tyrosinase-positive oculocutaneous albinism
Inborn genetic diseases
SKIN/HAIR/EYE PIGMENTATION 1
BLUE/NONBLUE EYES
See cases
Albinism or congenital nystagmus
OCA2-related disorder
Tyrosinase-positive oculocutaneous albinism
Inborn genetic diseases
SKIN/HAIR/EYE PIGMENTATION 1
BLUE/NONBLUE EYES
See cases
Albinism or congenital nystagmus
OCA2-related disorder
GWAS Studies (10)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Blond vs. brown/black hair color | T | OR: 5.94 | 2E-308 | PubMed |
| Hair colour (natural, before greying): Blonde (UKB data field 1747_1) | T | OR: 1.48 | 5E-296 | PubMed |
| Brown vs. black hair color | T | OR: 3.26 | 1E-31 | PubMed |
| Skin reflectance | T | β: 0.035 | 7E-28 | PubMed |
| Age started wearing glasses (UKB data field 2217) | T | β: 0.098 | 2E-19 | PubMed |
| Retinal thickness (pixel 64_127) | T | OR: 1.85 | 1E-18 | PubMed |
| Melanomas of skin (PheCode 172.11) | C | OR: 0.61 | 8E-18 | PubMed |
| Melanomas of skin (PheCode 172.11) | C | OR: 0.6 | 4E-17 | PubMed |
| Amblyopia (PheCode 368.1) | C | OR: 0.61 | 2E-11 | PubMed |
| Amblyopia (PheCode 368.1) | C | OR: 0.58 | 2E-11 | PubMed |
Other Variants in OCA2