rs1393350

plus

Geno	Mag	Summary
(A;A)	3
(A;G)	2
(G;G)	0	common on affy axiom data

Reference

GRCh38 38.1/141

Chromosome

11

Position

89277878

Gene	LOC107984363, TYR

is a	snp
is	mentioned by
dbSNP	rs1393350
dbSNP (classic)	rs1393350
ClinGen	rs1393350
ebi	rs1393350
HLI	rs1393350
Exac	rs1393350
Gnomad	rs1393350
Varsome	rs1393350
LitVar	rs1393350
Map	rs1393350
PheGenI	rs1393350
Biobank	rs1393350
1000 genomes	rs1393350
hgdp	rs1393350
ensembl	rs1393350
geneview	rs1393350
scholar	rs1393350
google	rs1393350
pharmgkb	rs1393350
gwascentral	rs1393350
openSNP	rs1393350
23andMe	rs1393350
SNPshot	rs1393350
SNPdbe	rs1393350
MSV3d	rs1393350
GWAS Ctlg	rs1393350

GMAF

0.1079

Max Magnitude

3

?

(A;A) (A;G) (G;G)

28

23andMe blog rs1393350 A 1.29 Melanoma

Rs1393350
PubMed	[PMID 17952075]
Affy Probeset	SNP_A-8317938
Affy Orientation	same
On GW 5.0	0
Alleles A/B	A/G
Ancestral
Population	Caucasian
Allele	A
Case Freq.
Control Freq.
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All	1.52
Disease	Blue rather than green eyes (EC-BG)

rs1393350 increases susceptibility to Blond rather than brown hair 1.29 times for carriers of the A allele [PMID 17952075]

rs1393350 increases susceptibility to Blue rather than green eyes 1.52 times for carriers of the A allele [PMID 17952075]

rs1393350 increases susceptibility to Skin sensitivity to sun 1.26 times for carriers of the A allele [PMID 17952075]

GWAS snp
PMID	[PMID 19340012 ]
Trait	Tanning
Title	Genome-Wide Association Study of Tanning Phenotype in a Population of European Ancestry
Risk Allele	A
P-val	2E-13
Odds Ratio

OMIM	601800
Desc	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3
Variant
Related	also

OMIM	606933
Desc	TYROSINASE; TYR
Variant
Related	also

GWAS snp
PMID	[PMID 19578364 ]
Trait	Melanoma
Title	Genome-wide association study identifies three loci associated with melanoma risk
Risk Allele	A
P-val	2E-14
Odds Ratio	1.29 [1.21-1.38]

GWAS snp
PMID	[PMID 20410501 ]
Trait	Vitiligo
Title	Variant of TYR and Autoimmunity Susceptibility Loci in Generalized Vitiligo
Risk Allele	G
P-val	2E-18
Odds Ratio	1.53 [1.39-1.68]

GWAS snp
PMID	[PMID 20585627 ]
Trait	Eye color
Title	Web-based, participant-driven studies yield novel genetic associations for common traits
Risk Allele	A
P-val	3E-9
Odds Ratio	0.28 [NR] unit decrease

OMIM	155601
Desc
Variant
Related	also

OMIM	613099
Desc
Variant
Related	also

GWAS snp
PMID	[PMID 21983787 ]
Trait
Title	Genome-wide association study identifies three new melanoma susceptibility loci.
Risk Allele	A
P-val	2E-13
Odds Ratio	1.3000 None

[PMID 18483556 ] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

[PMID 19384953 ] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.

[PMID 20463881 ] Digital quantification of human eye color highlights genetic association of three new loci.

[PMID 23100201 ] A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model