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rs1042602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) associated with the absence of freckles
(A;C) None
(C;C) 0 None
ReferenceGRCh38 38.1/141
Chromosome11
Position89178528
GeneTYR
is asnp
is mentioned by
dbSNPrs1042602
ebirs1042602
HLIrs1042602
Exacrs1042602
Varsomers1042602
Maprs1042602
PheGenIrs1042602
hapmaprs1042602
1000 genomesrs1042602
hgdprs1042602
ensemblrs1042602
gopubmedrs1042602
geneviewrs1042602
scholarrs1042602
googlers1042602
pharmgkbrs1042602
gwascentralrs1042602
openSNPrs1042602
23andMers1042602
23andMe allrs1042602
SNP Nexus

SNPshotrs1042602
SNPdbers1042602
MSV3drs1042602
GWAS Ctlgrs1042602
GMAF0.1823
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Influences appearance

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

OMIM606933
DescTYROSINASE POLYMORPHISM
Variant0008
Relatedalso
Neighborrs28940877
Distance310
Neighborrs28940880
Distance41
GWAS
SNP rs1042602
PubMedID [PMID 17999355OA-icon.png]
Condition Skin pigmentation by reflectance spectroscopy
Gene TYR
Risk Allele C
pValue 4.00E-010
OR 4.36
95% CI 2.64-7.20


GWAS snp
PMID [PMID 17952075]
Trait Freckles
Title Genetic determinants of hair, eye and skin pigmentation in Europeans
Risk Allele C
P-val 1.9999999999999999E-11
Odds Ratio 1.32 [1.17-1.49]
OMIM601800
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3
Variant
Relatedalso



ClinVar
Risk rs1042602(A;A)
Alt rs1042602(A;A)
Reference rs1042602(C;C)
Significance Other
Disease Skin/hair/eye pigmentation Tyrosinase-negative oculocutaneous albinism not provided not specified
Variation info
Gene TYR
CLNDBN Skin/hair/eye pigmentation, variation in, 3 Tyrosinase-negative oculocutaneous albinism not provided not specified
Reversed 0
HGVS NC_000011.9:g.88911696C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003977.4, RCV000055807.1, RCV000085955.1, RCV000173114.1,



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GET Evidence
TYR-S192Y
aa_change Ser192Tyr
aa_change_short S192Y
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.270682
summary 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).