{{Rsnum
|rsid=1042602
|Gene=TYR
|Chromosome=11
|position=89178528
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.1823
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=TYR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 23.0 | 39.8 | 37.2
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 10.9 | 89.1
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 1.0 | 20.8 | 78.2
| LWK | 0.0 | 0.0 | 0.0
| MEX | 3.5 | 36.8 | 59.6
| MKK | 0.0 | 0.0 | 0.0
| TSI | 23.5 | 53.9 | 22.5
| HapMapRevision=28
}}Influences [[appearance]]

The A allele of rs1042602 is associated with the absence of freckles

{{omim
|desc=TYROSINASE POLYMORPHISM
|id=606933
|rsnum=1042602
|variant=0008
}}

{{ neighbor
| rsid = 28940877
| distance = 310
}}
{{ neighbor
| rsid = 28940880
| distance = 41
}}

{{GWAS Summary
|SNP=rs1042602
|PubMedID=17999355
|Condition=Skin pigmentation by reflectance spectroscopy
|Gene=TYR
|Risk Allele=C
|pValue=4.00E-010
|OR=4.36
|95CI=2.64-7.20
|OA=1
}}

{{PMID Auto GWAS
|PMID=17952075
|Trait=Freckles
|Title=Genetic determinants of hair, eye and skin pigmentation in Europeans
|RiskAllele=C
|Pval=1.9999999999999999E-11
|OR=1.32
|ORtxt=[1.17-1.49]
}}

{{omim
|id=601800
|desc=SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3
|rsnum=1042602
}}

{{PharmGKB
|RSID=rs1042602
|Name_s=
|Gene_s=TYR
|Feature=
|Evidence=PubMed ID:17999355; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A genomewide association study of skin pigmentation in a South Asian population (Initial Sample Size: 363 with maxL* < 56 and 374 with maxL* > 63; 20% tails of distribution; Replication Sample Size: 116 low maxL*, 115 high maxL* individuals). This variant is associated with skin pigmentation by reflectance spectroscopy.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356698
}}

{{ClinVar
|rsid=1042602
|Reversed=0
|FwdREF=C
|FwdALT=A
|REF=C
|ALT=A
|RSPOS=88911696
|CHROM=11
|GMAF=0.1827
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x050368000000150517130101
|GENEINFO=TYR:7299
|GENE_NAME=TYR
|GENE_ID=7299
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.88911696C>A
|CLNORIGIN=1
|CLNSRCID=
NBK1166; 606933.0008; RISN-TYR:c.575C>A
|CLNSIG=255
|CLNCUI=
|CLNACC=
RCV000003977.2; RCV000055807.1; RCV000085955.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.8177; 0.1823
|CLNDBN=Skin/hair/eye pigmentation, variation in, 3; Oculocutaneous albinism type 1A; not provided
|CLNDSDB=MedGen:OMIM; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C2677190:601800; NBK1166:C0268494:203100:352731:79431:6483008
|CLNSRC=GeneReviews; OMIM Allelic Variant; Retina International
|COMMON=1
|Disease=Skin/hair/eye pigmentation; Oculocutaneous albinism type 1A; not provided
}}

{{PMID Auto
|PMID=15660291
|Title=Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study.
|OA=1
}}

{{PMID Auto
|PMID=18282109
|Title=Adaptations to climate in candidate genes for common metabolic disorders.
|OA=1
}}

{{PMID Auto
|PMID=18654799
|Title=Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease.
|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=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

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

{{PMID Auto
|PMID=19586928
|Title=Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease.
|OA=1
}}

{{PMID Auto
|PMID=20021678
|Title=Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study.
|OA=1
}}

{{PMID Auto
|PMID=20585627
|Title=Web-based, participant-driven studies yield novel genetic associations for common traits.
|OA=1
}}

{{GET Evidence
|gene=TYR
|aa_change=Ser192Tyr
|aa_change_short=S192Y
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042602
|overall_frequency_n=2912
|overall_frequency_d=10758
|overall_frequency=0.270682
|n_genomes=31
|n_genomes_annotated=0
|n_haplomes=38
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_familial=0
|gene_in_genetests=Y
|in_omim=Y
|in_gwas=Y
|in_pharmgkb=Y
|pph2_score=0.919
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=5
|autoscore=5
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=0
|summary_short=This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}