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rs1408799

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs1408799(C;T)
Make rs1408799(T;T)
ReferenceGRCh37 37.1/131
Chromosome9
Position12672097
is asnp
is mentioned by
dbSNPrs1408799
ebirs1408799
HLIrs1408799
Exacrs1408799
Varsomers1408799
Maprs1408799
PheGenIrs1408799
hapmaprs1408799
1000 genomesrs1408799
hgdprs1408799
ensemblrs1408799
gopubmedrs1408799
geneviewrs1408799
scholarrs1408799
googlers1408799
pharmgkbrs1408799
gwascentralrs1408799
openSNPrs1408799
23andMers1408799
23andMe allrs1408799
SNP Nexus

SNPshotrs1408799
SNPdbers1408799
MSV3drs1408799
GWAS Ctlgrs1408799
GMAF0.3499
Max Magnitude0
? (C;C) (C;T) (T;T) 28
GWAS
SNP rs1408799
PubMedID [PMID 18488028]
Condition Blue vs. green eyes
Gene TYRP1
Risk Allele C
pValue 6.00E-017
OR 1.4
95% CI 1.25-1.57


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

OMIM155600
DescMELANOMA, CUTANEOUS MALIGNANT; CMM
Variant
Relatedalso
OMIM612271
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11
Variant
Relatedalso
OMIM115501
DescTYROSINASE-RELATED PROTEIN 1; TYRP1
Variant
Relatedalso



GET Evidence
rs1408799
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.436508
summary



GWAS snp
PMID [PMID 23548203OA-icon.png]
Trait Eye color
Title Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Risk Allele C
P-val 5E-7
Odds Ratio .27 [0.17-0.37] unit decrease