rs1126809

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)		slight increase in skin cancer risk
(A;G)	0	slight increase in skin cancer risk
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

11

Position

89284793

Gene	LOC107984363, TYR

is a	snp
is	mentioned by
dbSNP	rs1126809
dbSNP (classic)	rs1126809
ClinGen	rs1126809
ebi	rs1126809
HLI	rs1126809
Exac	rs1126809
Gnomad	rs1126809
Varsome	rs1126809
LitVar	rs1126809
Map	rs1126809
PheGenI	rs1126809
Biobank	rs1126809
1000 genomes	rs1126809
hgdp	rs1126809
ensembl	rs1126809
geneview	rs1126809
scholar	rs1126809
google	rs1126809
pharmgkb	rs1126809
gwascentral	rs1126809
openSNP	rs1126809
23andMe	rs1126809
SNPshot	rs1126809
SNPdbe	rs1126809
MSV3d	rs1126809
GWAS Ctlg	rs1126809

Merged from

Rs1800422

GMAF

0.112

Max Magnitude

0

?	(A;A) (A;G) (G;G)	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^-7) and basal cell carcinoma (odds ratio 1.14, p = 6.1 x 10^-4).[PMID 18488027]

[PMID 19208379] rs1126809 is not associated with albinism.

[PMID 19320745] Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.

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

OMIM	606933
Desc	TYROSINASE; TYR
Variant
Related	also

OMIM	606933
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs1126809(A;A)
Alt	Rs1126809(A;A)
Reference	Rs1126809(G;G)
Significance	Other
Disease	Oculocutaneous albinism type 1B Oculocutaneous albinism type 1 Cutaneous malignant melanoma 8 Skin/hair/eye pigmentation Skin/hair/eye pigmentation 3 Waardenburg syndrome 2 and ocular albinism not provided not specified Oculocutaneous albinism
Variation	info
Gene	TYR
CLNDBN	Oculocutaneous albinism type 1B Oculocutaneous albinism type 1, temperature sensitive 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 not specified Oculocutaneous albinism
Reversed	0
HGVS	NC_000011.9:g.89017961G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003978.7, RCV000003979.4, RCV000003980.4, RCV000003981.4, RCV000003982.4, RCV000023596.4, RCV000085910.1, RCV000254054.2, RCV000379382.1,

[PMID 19340012] Genome-wide association study of tanning phenotype in a population of European ancestry.

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

[PMID 19578364] Genome-wide association study identifies three loci associated with melanoma risk.

GWAS snp
PMID	[PMID 23548203]
Trait	Sunburns
Title	Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Risk Allele	G
P-val	2E-8
Odds Ratio	.60 [0.38-0.82] unit increase

[PMID 30680790] Phenotypic and Genotypic Analysis of Amelanotic and Hypomelanotic Melanoma Patients.

[PMID 33167923] Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil.