Rs1426654
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1426654 |
| PheGenI | rs1426654 |
| nextbio | rs1426654 |
| hapmap | rs1426654 |
| 1000 genomes | rs1426654 |
| hgdp | rs1426654 |
| ensembl | rs1426654 |
| gopubmed | rs1426654 |
| geneview | rs1426654 |
| scholar | rs1426654 |
| rs1426654 | |
| pharmgkb | rs1426654 |
| gwascentral | rs1426654 |
| openSNP | rs1426654 |
| 23andMe | rs1426654 |
| 23andMe all | rs1426654 |
| SNP Nexus | |
| SNPshot | rs1426654 |
| SNPdbe | rs1426654 |
| MSV3d | rs1426654 |
| Gene | SLC24A5 |
| Chromosome | 15 |
| Orientation | plus |
| Position | 48426484 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 2.7 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.7 | probably light-skinned, European ancestry |
| (A;G) | 2.5 | mixed African/European ancestry possible |
| (G;G) | 2.6 | probably darker-skinned, Asian or African ancestry |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
It appears as if this SNP is a relatively new one in human evolution; one estimate [PMID 17182896] is that the rs1426654(A) allele, in other words, light skin pigmentation, spread through the European population around 6,000 - 12,000 years ago. Prior to that, "European ancestors" were most likely relatively brown-skinned.
This SNP is one of three from the SLC24A5 gene that can be analyzed to categorize the ancestry of a person as either European, African, or Asian, based on a 2009 study.[PMID 19440451]
The 3 SNPs are:
- rs1426654
- rs2555364
- rs16960620
| OMIM | 609802 |
| Desc | SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER |
| Variant | |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs1426654(G;G) |
| Normal | rs1426654(A;A) |
| Significance | 5 |
| Disease | Skin/hair/eye pigmentation |
| ClinVar | info |
| Gene | SLC24A5 |
| CLNDBN | Skin/hair/eye pigmentation, variation in, 4 |
| Reversed | 0 |
| CLNHGVS | NC_000015.9:g.48426484A>G |
| CLNSRC | OMIM Allelic Variant |
[PMID 16255080] A haplotype map of the human genome.
[PMID 17557415] A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping.
[PMID 17999355] A genomewide association study of skin pigmentation in a South Asian population.
[PMID 18248681] Prevalence of common disease-associated variants in Asian Indians.
[PMID 18282109] Adaptations to climate in candidate genes for common metabolic disorders.
[PMID 18637132] A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects.
[PMID 19384953] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
[PMID 19503611] The role of geography in human adaptation.
[PMID 19737746] Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.
[PMID 19884608] Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations.
| GET Evidence | |
|---|---|
| SLC24A5-T111A | |
| aa_change | Thr111Ala |
| aa_change_short | T111A |
| impact | not reviewed |
| qualified_impact | Insufficiently evaluated not reviewed |
| overall_frequency | 0.269753 |
| summary | |
[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
