RS1126809 TYR

Health Risk Chr 11:89284793

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What This Variant Does

"rs1126809 is a SNP in the TYR tyrosinase gene. This SNP is also known as R402Q (or, 1205G&gt

Associated Conditions

Oculocutaneous albinism type 1B

Temperature-sensitive oculocutaneous albinism type 1

Melanoma

cutaneous malignant

susceptibility to

SKIN/HAIR/EYE PIGMENTATION 3

LIGHT/DARK SKIN

Skin/hair/eye pigmentation 3

blue/green eyes

Oculocutaneous albinism type 1A

6 conditions

Autosomal recessive ocular albinism

Malignant tumor of breast

Oculocutaneous albinism type 1

GWAS Studies (20)

Trait	Risk Allele	OR / Beta	P-value	Study
Sunburns	—	—	4E-280	PubMed
Eye color	G	OR: 0.29	2E-255	PubMed
Cutaneous melanoma or hair colour	G	—	4E-199	PubMed
Low tan response	A	OR: 0.26	2E-172	PubMed
Actinic keratosis (PheCode 702.1)	G	OR: 0.15	4E-171	PubMed
Skin cancer	G	OR: 0.15	5E-165	PubMed
Other non-epithelial cancer of skin (PheCode 172.2)	G	OR: 0.15	6E-138	PubMed
Melanomas of skin, dx or hx (PheCode 172.1)	G	OR: 0.17	3E-114	PubMed
Actinic keratosis (PheCode 702.1)	G	OR: 0.15	5E-100	PubMed
Skin cancer	G	OR: 0.15	2E-99	PubMed
Degenerative skin conditions and other dermatoses (PheCode 702)	G	OR: 0.11	1E-98	PubMed
Neoplasm of uncertain behavior of skin (PheCode 173)	G	OR: 0.14	1E-97	PubMed
Skin cancer	G	OR: 0.15	8E-96	PubMed
Other non-epithelial cancer of skin (PheCode 172.2)	G	OR: 0.15	3E-88	PubMed
Melanomas of skin, dx or hx (PheCode 172.1)	G	OR: 0.17	5E-87	PubMed
Basal cell carcinoma (PheCode 172.21)	G	OR: 0.16	4E-79	PubMed
Left eye overall retinal pigment epithelium thickness	A	OR: 0.16	7E-76	PubMed
Skin cancer	G	OR: 0.15	1E-72	PubMed
Neoplasm of uncertain behavior of skin (PheCode 173)	G	OR: 0.14	1E-72	PubMed
Cutaneous malignant melanoma	A	OR: 1.2	4E-70	PubMed

Other Variants in TYR