Rs1126809

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Orientationplus
Geno Mag Summary
(A;A) slight increase in skin cancer risk
(A;G) 0 slight increase in skin cancer risk
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome11
Position89284793
GeneTYR
is asnp
is mentioned by
dbSNPrs1126809
PheGenIrs1126809
nextbiors1126809
hapmaprs1126809
1000 genomesrs1126809
hgdprs1126809
ensemblrs1126809
gopubmedrs1126809
geneviewrs1126809
scholarrs1126809
googlers1126809
pharmgkbrs1126809
gwascentralrs1126809
openSNPrs1126809
23andMers1126809
23andMe allrs1126809
SNP Nexus

SNPshotrs1126809
SNPdbers1126809
MSV3drs1126809
Merged fromRs1800422
GMAF0.112
Max Magnitude0
? (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.


Venter snp
Source plos
Gene TYR
allele A
frequency
sift TOLERATED
HuRef 1103649749751
Disease Association Defects in TYR are the cause of oculocutaneous albinism type I temperature-sensitive (OCA-ITS) (MIM:606952). OCA-ITS patients have white axilary and scalp hair and pigmented arm and leg hair.


Neighborrs1800422
Distance1

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

OMIM601800
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3
Variant
Relatedalso
OMIM606933
DescTYROSINASE; TYR
Variant
Relatedalso


OMIM606933
Desc
Variant0009
Relatedalso


ClinVar
Risk rs1126809(A;A)
Alt rs1126809(A;A)
Reference rs1126809(G;G)
Significance Other
Disease Oculocutaneous albinism type 1B Oca1-ts Cutaneous malignant melanoma 8 Skin/hair/eye pigmentation Skin/hair/eye pigmentation 3 WAARDENBURG SYNDROME 2 AND OCULAR ALBINISM not provided
Variation info
Gene TYR
CLNDBN Oculocutaneous albinism type 1B Oca1-ts 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
Reversed 0
HGVS NC_000011.9:g.89017961G>A
CLNSRC GeneReviews OMIM Allelic Variant Retina International
CLNACC RCV000003978.5, RCV000003979.3, RCV000003980.3, RCV000003981.3, RCV000003982.3, RCV000023596.3, RCV000085910.1,



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


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


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


GET Evidence
TYR-R402Q
aa_change Arg402Gln
aa_change_short R402Q
impact benign
qualified_impact Low clinical importance, benign
overall_frequency 0.204964
summary This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.



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