{{Rsnum
|rsid=1126809
|Gene=TYR
|Chromosome=11
|position=89284793
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.112
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TYR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 4.6 | 33.8 | 61.5
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}[[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<sup>-7</sup>) and basal cell carcinoma (odds ratio 1.14, p = 6.1 x 10<sup>-4</sup>).{{PMID|18488027}}

{{PMID|19208379}} [[rs1126809]] is not associated with albinism.

{{Venter SNP
|rsid=1126809
|allele=A
|frequency=
|uid=1103649749751
|type=heterozygous_SNP
|hugo=TYR
|ensembl gene=ENSG00000077498
|ensembl transcript=ENST00000263321
|sift=TOLERATED
|disease=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.
}}
{{ neighbor
| rsid = 1800422
| distance = 1
}}
{{PMID Auto
|PMID=19320745
|Title=Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.
}}

{{omim
|id=601800
|desc=SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3
|rsnum=1126809
}}

{{omim
|id=606933
|desc=TYROSINASE; TYR
|rsnum=1126809
}}

{{PharmGKB
|RSID=rs1126809
|Name_s=TYR: R402Q
|Gene_s=TYR
|Feature=
|Evidence=PubMed ID:18488027
|Annotation=This variant is associated with the risk of cutaneous melanoma and basal cell carcinoma. It is also stronly associated pigmentation, freckling and skin sensitivity to sun.
|Drugs=
|Drug Classes=
|Diseases=Carcinoma, Basal Cell; Melanoma
|Curation Level=Curated
|PharmGKB Accession ID=PA162355810
}}

{{omim
|id=606933
|rsnum=1126809
|variant=0009
}}

{{ClinVar
|rsid=1126809
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=89017961
|CHROM=11
|GMAF=0.1117
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x050368000000150117130100
|GENEINFO=TYR:7299
|GENE_NAME=TYR
|GENE_ID=7299
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.89017961G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=NBK1166; 606933.0009; RISN-TYR:c.1205G>A
|CLNSIG=255
|CLNCUI=C1847024; C2677190
|CLNDBN=Oculocutaneous albinism type 1B; Oca1-ts; 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
|Disease=Oculocutaneous albinism type 1B; Oca1-ts; Cutaneous malignant melanoma 8; Skin/hair/eye pigmentation; Skin/hair/eye pigmentation 3; WAARDENBURG SYNDROME 2 AND OCULAR ALBINISM; not provided
|CLNACC=RCV000003978.5; RCV000003979.3; RCV000003980.3; RCV000003981.3; RCV000003982.3; RCV000023596.3; RCV000085910.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.888; 0.112
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet; MedGen:OMIM:Orphanet; MedGen:OMIM
|CLNDSDBID=NBK1166:C1847024:606952:352731:352737:79434; C3152204:614456:293822; C2677190:601800
|COMMON=1
}}

{{PMID Auto
|PMID=19340012
|Title=Genome-wide association study of tanning phenotype in a population of European ancestry.
|OA=1
}}

{{PMID Auto
|PMID=19384953
|Title=Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
|OA=1
}}

{{PMID Auto
|PMID=19578364
|Title=Genome-wide association study identifies three loci associated with melanoma risk.
|OA=1
}}

{{GET Evidence
|gene=TYR
|aa_change=Arg402Gln
|aa_change_short=R402Q
|impact=benign
|qualified_impact=Low clinical importance,  benign
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs1126809
|overall_frequency_n=2205
|overall_frequency_d=10758
|overall_frequency=0.204964
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=11
|n_articles=7
|n_articles_annotated=7
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=2
|qualitycomment_in_vitro=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|in_omim=Y
|in_pharmgkb=Y
|pph2_score=0.997
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=5
|webscore=Y
|variant_evidence=0
|clinical_importance=2
|summary_short=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.
}}

{{PMID Auto GWAS
  |PMID=23548203
  |Trait=Sunburns
  |Title=Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
  |RiskAllele=G
  |Pval=2E-8
  |OR=.60
  |ORtxt=[0.38-0.82] unit increase
  }}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}