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rs1393350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3
(A;G) 2
(G;G) 0 common on affy axiom data
ReferenceGRCh38 38.1/141
Chromosome11
Position89277878
GeneTYR
is asnp
is mentioned by
dbSNPrs1393350
ebirs1393350
HLIrs1393350
Exacrs1393350
Varsomers1393350
Maprs1393350
PheGenIrs1393350
hapmaprs1393350
1000 genomesrs1393350
hgdprs1393350
ensemblrs1393350
gopubmedrs1393350
geneviewrs1393350
scholarrs1393350
googlers1393350
pharmgkbrs1393350
gwascentralrs1393350
openSNPrs1393350
23andMers1393350
23andMe allrs1393350
SNP Nexus

SNPshotrs1393350
SNPdbers1393350
MSV3drs1393350
GWAS Ctlgrs1393350
GMAF0.1079
Max Magnitude3
? (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 19340012OA-icon.png]
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
OMIM601800
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3
Variant
Relatedalso
OMIM606933
DescTYROSINASE; TYR
Variant
Relatedalso
GWAS snp
PMID [PMID 19578364OA-icon.png]
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 20410501OA-icon.png]
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 20585627OA-icon.png]
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
OMIM155601
Desc
Variant
Relatedalso
OMIM613099
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21983787OA-icon.png]
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 18483556OA-icon.png] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

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

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


GET Evidence
rs1393350
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.109375
summary



[PMID 23100201OA-icon.png] 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