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Rs1540771

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Orientationplus
is asnp
is mentioned by
dbSNPrs1540771
PheGenIrs1540771
nextbiors1540771
hapmaprs1540771
1000 genomesrs1540771
hgdprs1540771
ensemblrs1540771
gopubmedrs1540771
geneviewrs1540771
scholarrs1540771
googlers1540771
pharmgkbrs1540771
gwascentralrs1540771
openSNPrs1540771
23andMers1540771
23andMe allrs1540771
SNP Nexus

SNPshotrs1540771
SNPdbers1540771
MSV3drs1540771
Chromosome6
Orientationplus
GMAF0.3489
Position466033
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs1540771(A;G)
Make rs1540771(G;G)
? (A;A) (A;G) (G;G) 28
plos the association between rs12203592 and hair color was independent of rs1540771, a SNP between the IRF4 and EXOC2 genes previously found to be associated with hair color.
GWAS
SNP rs1540771
PubMedID [PMID 17952075]
Condition Freckles
Gene SEC5L1,IRF4
Risk Allele A
pValue 4.00E-018
OR 1.4
95% CI 1.26-1.57


OMIM611724
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8
Variant
Relatedalso
[PMID 18483556OA-icon.png] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.


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


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19884608OA-icon.png] Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations.


[PMID 20585627OA-icon.png] Web-based, participant-driven studies yield novel genetic associations for common traits.


GET Evidence
rs1540771
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.335938
summary