Rs1540771

Orientation

minus

is a	snp
is	mentioned by
dbSNP	rs1540771
PheGenI	rs1540771
nextbio	rs1540771
hapmap	rs1540771
1000 genomes	rs1540771
hgdp	rs1540771
ensembl	rs1540771
gopubmed	rs1540771
geneview	rs1540771
scholar	rs1540771
google	rs1540771
pharmgkb	rs1540771
gwascentral	rs1540771
openSNP	rs1540771
23andMe	rs1540771
23andMe all	rs1540771
SNP Nexus
SNPshot	rs1540771
SNPdbe	rs1540771
MSV3d	rs1540771

Chromosome

6

Orientation

minus

GMAF

0.3484

Position

466033

Reference

GRCh37 37.1/131

Max Magnitude

0

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

OMIM	611724
Desc	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8
Variant
Related	also

[PMID 18483556] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

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

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

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

[PMID 20585627] 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