Rs1042602

Gene

Chromosome

11

Orientation

plus

Position

88551343

Genotype	Effect
rs1042602(A;A)	associated with the absence of freckles
rs1042602(A;C)	None
rs1042602(C;C)	None

Genotypes	Magnitude	Summary
Rs1042602(A;A)		associated with the absence of freckles
Rs1042602(A;C)		None
Rs1042602(C;C)		None

Influences appearance

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

Neighbor	rs28940877
Distance	310

Neighbor	rs28940880
Distance	41

?	(A;A) (A;C) (C;C)

GWAS
SNP	rs1042602
PubMedID	[PMID 17999355]
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]

Related to SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 according to omim 601800. See also

PharmGKB	PA162356698
Name
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.
Gene	TYR
Featue
Evidence	PubMed ID:17999355; Web Resource:http://www.genome.gov/gwastudies/
Drugs
Diseases
Curation Level	Non-Curated