rs1126809 is a SNP in the TYR tyrosinase gene. This SNP is also known as R402Q (or, 1205G>A) based on the amino acid change at position 402 from an arginine (R) to a glutamine (Q). The rs1126809(G) allele encodes the more common (R)/arginine, while the variant rs1126809(A) allele encodes the (Q)/glutamine.
rs1126809(A) has previously been shown to affect eye color and sun sensitivity. Based on a study of 4,000+ skin cancer patients, it also conferred increased risk of cutaneous malignant melanoma (odds ratio 1.21, p = 2.8 x 10-7) and basal cell carcinoma (odds ratio 1.14, p = 6.1 x 10-4).[PMID 18488027]
[PMID 19208379] rs1126809 is not associated with albinism.
|Disease Association||Defects in TYR are the cause of oculocutaneous albinism type I temperature-sensitive (OCA-ITS) (MIM:606952). OCA-ITS patients have white axilary and scalp hair and pigmented arm and leg hair.|
[PMID 19320745] Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.
|Disease||Oculocutaneous albinism type 1B Oculocutaneous albinism type 1 Cutaneous malignant melanoma 8 Skin/hair/eye pigmentation Skin/hair/eye pigmentation 3 WAARDENBURG SYNDROME 2 AND OCULAR ALBINISM not provided|
|CLNDBN||Oculocutaneous albinism type 1B Oculocutaneous albinism type 1, temperature sensitive Cutaneous malignant melanoma 8 Skin/hair/eye pigmentation, variation in, 3 Skin/hair/eye pigmentation 3, blue/green eyes WAARDENBURG SYNDROME 2 AND OCULAR ALBINISM, DIGENIC not provided|
|CLNSRC||ClinVar GeneReviews OMIM Allelic Variant Retina International|
|CLNACC||RCV000003978.5, RCV000003979.3, RCV000003980.3, RCV000003981.4, RCV000003982.4, RCV000023596.3, RCV000085910.1,|
[PMID 19340012] Genome-wide association study of tanning phenotype in a population of European ancestry.
[PMID 19384953] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
[PMID 19578364] Genome-wide association study identifies three loci associated with melanoma risk.
|qualified_impact||Low clinical importance, benign|
|summary||This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.|
|Title||Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.|
|Odds Ratio||.60 [0.38-0.82] unit increase|