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rs26722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 2.1 perhaps darker eye, hair, skin
(T;T) darker eye, hair, skin color
ReferenceGRCh38 38.1/141
Chromosome5
Position33963765
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs26722
ClinGenrs26722
ebirs26722
HLIrs26722
Exacrs26722
Varsomers26722
Maprs26722
PheGenIrs26722
hapmaprs26722
1000 genomesrs26722
hgdprs26722
ensemblrs26722
gopubmedrs26722
geneviewrs26722
scholarrs26722
googlers26722
pharmgkbrs26722
gwascentralrs26722
openSNPrs26722
23andMers26722
23andMe allrs26722
SNP Nexus

SNPshotrs26722
SNPdbers26722
MSV3drs26722
GWAS Ctlgrs26722
GMAF0.1552
Max Magnitude2.1
? (C;C) (C;T) (T;T) 28

Although the rs26722(T) alllele is relatively rare, at least statistically it seems to be associated with darker eye, hair, and skin color, all other things being equal.[PMID 15714523]

OMIM606202
DescPIGMENTATION OF HAIR, SKIN, AND EYES, VARIATION IN
Variant0007
Relatedalso


ClinVar
Risk Rs26722(T;T)
Alt Rs26722(T;T)
Reference Rs26722(C;C)
Significance Other
Disease Skin/hair/eye pigmentation not specified Oculocutaneous albinism
Variation info
Gene SLC45A2
CLNDBN Skin/hair/eye pigmentation, variation in, 5 not specified Oculocutaneous albinism
Reversed 0
HGVS NC_000005.9:g.33963870C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004762.3, RCV000243202.1, RCV000354755.1,



[PMID 17999355OA-icon.png] A genomewide association study of skin pigmentation in a South Asian population.

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

[PMID 18806926] Association of the SLC45A2 gene with physiological human hair colour variation.

[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 20042077OA-icon.png] Genetic determinants of hair and eye colours in the Scottish and Danish populations.


GET Evidence
SLC45A2-E272K
aa_change Glu272Lys
aa_change_short E272K
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.0290946
summary Pigmentation allele for black hair in Caucasian population.



[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