rs26722
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 2.1 | perhaps darker eye, hair, skin |
| (T;T) | darker eye, hair, skin color |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 33963765 |
| Gene | SLC45A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs26722 |
| dbSNP (classic) | rs26722 |
| ClinGen | rs26722 |
| ebi | rs26722 |
| HLI | rs26722 |
| Exac | rs26722 |
| Gnomad | rs26722 |
| Varsome | rs26722 |
| LitVar | rs26722 |
| Map | rs26722 |
| PheGenI | rs26722 |
| Biobank | rs26722 |
| 1000 genomes | rs26722 |
| hgdp | rs26722 |
| ensembl | rs26722 |
| geneview | rs26722 |
| scholar | rs26722 |
| rs26722 | |
| pharmgkb | rs26722 |
| gwascentral | rs26722 |
| openSNP | rs26722 |
| 23andMe | rs26722 |
| SNPshot | rs26722 |
| SNPdbe | rs26722 |
| MSV3d | rs26722 |
| GWAS Ctlg | rs26722 |
| GMAF | 0.1552 |
| Max Magnitude | 2.1 |
| ? | (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]
| 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 17999355
] A genomewide association study of skin pigmentation in a South Asian population.
[PMID 18483556] 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 19340012] Genome-wide association study of tanning phenotype in a population of European ancestry.
[PMID 19384953] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
[PMID 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
[PMID 23100201] 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
