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rs16891982
Traits
| Trait | Variant | Impact | PMID | Author (year) |
|---|---|---|---|---|
| Age started wearing glasses or contact lenses | G |
|
Unknown journal | UKB Neale v2 (2018) |
| Ease of skin tanning | G |
|
Unknown journal | UKB Neale v2 (2018) |
| Skin colour | G |
|
Unknown journal | UKB Neale v2 (2018) |
| Childhood sunburn occasions | G |
|
Unknown journal | UKB Neale v2 (2018) |
| Use of sun/uv protection | G |
|
Unknown journal | UKB Neale v2 (2018) |
| Facial ageing | G |
|
Unknown journal | UKB Neale v2 (2018) |
| Basal cell carcinoma | G |
|
Genome Med | Adolphe C (2021) |
| Black | hair colour (natural, before greying) | G |
|
Unknown journal | UKB Neale v2 (2018) |
| Blond vs. brown/black hair color | G |
|
Nat Commun | Morgan MD (2018) |
| Blonde | hair colour (natural, before greying) | G |
|
Unknown journal | UKB Neale v2 (2018) |
| Brown vs. black hair color | G |
|
Nat Commun | Morgan MD (2018) |
| Cutaneous malignant melanoma | G |
|
Nat Genet | Landi MT (2020) |
| Dark brown | hair colour (natural, before greying) | G |
|
Unknown journal | UKB Neale v2 (2018) |
| Eye color [eye color] | G |
|
PLoS Genet | Eriksson N (2010) |
| Eye color traits [Eye color phototype score] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Eye color traits [Eye color] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Hair color | G |
|
Nat Genet | Hysi PG (2018) |
| Hair color [hair color] | G |
|
PLoS Genet | Eriksson N (2010) |
| Hair morphology traits [Hair color (black] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Hair morphology traits [Hair color (brown] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Hair morphology traits [Hair color (light] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Hair morphology traits [Hair color phototype score] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Hair morphology traits [Hair color] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Light brown | hair colour (natural, before greying) | G |
|
Unknown journal | UKB Neale v2 (2018) |
| Low tan response | G |
|
Nat Commun | Visconti A (2018) |
| Melanoma | G |
|
Oncotarget | Ransohoff KJ (2017) |
| Melanomas of skin | G |
|
Unknown journal | UKB SAIGE (2018) |
| Melanomas of skin, dx or hx | G |
|
Unknown journal | UKB SAIGE (2018) |
| Monobrow | G |
|
Nat Genet | Pickrell JK (2016) |
| Other non-epithelial cancer of skin | G |
|
Unknown journal | UKB SAIGE (2018) |
| Rosacea symptom severity | G |
|
Hum Mol Genet | Aponte JL (2018) |
| Skin cancer | G |
|
Unknown journal | UKB SAIGE (2018) |
| Skin pigmentation | G |
|
BMC Genet | Lona-Durazo F (2019) |
| Skin pigmentation traits [Fitzpatrick phototype score] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Skin pigmentation traits [Phototype score] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Skin pigmentation traits [Skin color phototype score] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Skin pigmentation traits [Skin color] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Skin pigmentation traits [Skin sensitivity to sun (high to low] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Skin pigmentation traits [Skin sensitivity to sun (high-medium to low-medium] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Skin pigmentation traits [Skin sensitivity to sun phototype score] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Skin pigmentation traits [Skin sensitivity to sun] | G |
|
J Med Genet | Galvan-Femenia I (2018) |
| Skin reflectance (Melanin index) | G |
|
PLoS Genet | Batai K (2021) |
| Squamous cell carcinoma | G |
|
J Invest Dermatol | Asgari MM (2016) |
| Sunburns | G |
|
Am J Hum Genet | Kichaev G (2018) |
| Youthful appearance (self-reported) | G |
|
J Invest Dermatol | Roberts V (2020) |
Summary
This snp influences skin pigmentation. The allele p.L374F indicates light-skinned european ancestry [PMID 16847698]
[PMID 18563784] c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 was associated with protection from malignant melanoma (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing)
An association study conducted on a population of European origin concluded that the rare (in Europeans, at least) allele L374, i.e. rs16891982(C) in dbSNP orientation, significantly increases the possibility of having black hair color, with an odds ratio of around 7.[PMID 18806926]
[PMID 20457063] Human eye colour and HERC2, OCA2 and MATP
[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 19384953] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
[PMID 19440451] Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations.
[PMID 19668368] Ancestry analysis in the 11-M Madrid bomb attack investigation.
[PMID 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
[PMID 20463881] Digital quantification of human eye color highlights genetic association of three new loci.
[PMID 20806075] Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
[PMID 20850402] Genetic analysis of the SNPforID 34-plex ancestry informative SNP panel in Tunisian and Libyan populations.
[PMID 22912732] Skin Color Variation in Orang Asli Tribes of Peninsular Malaysia
[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
Squamous Cell Carcinoma
[PMID 23393597] Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study
[PMID 23786662] Systematic identification of DNA variants associated with ultraviolet radiation using a novel Geographic-Wide Association Study (GeoWAS)
[PMID 23771755] Improved eye- and skin-color prediction based on 8 SNPs.
[PMID 25093503] The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population
[PMID 25142205] Assessment of high resolution melting analysis as a potential SNP genotyping technique in forensic casework
More Information
rs16891982 is a SNP in the SLC45A2 gene. It is strongly associated with malignant melanoma (MM) (OR, 0.41; P=0.008) [R1, R2].
It was also highly associated with human hair color and skin pigmentation (P = 0.036 for hair color (black to blonde), P = 0.016 for tanning ability, and P = 0.0009 for skin color) [R].
Brown eye color is predicted for the C/C gneotype plus A/A or G/A at rs12913832, green eye color is predcited by C/Cc genotype plus G/G at rs12913832 [R].
The ''C'' allele was strongly associated with melanoma and pigmentation traits (OR 0.51; P = 0.001) [R].
Population Alleles Frequency
|
ethhicity
frequency
|
A | G |
|---|---|---|
| African/African-American | – | 0.1597 |
| Latino/Admixed American | – | 0.4257 |
| Ashkenazi Jewish | – | 0.9063 |
| East Asian | – | 0.0051 |
| European | – | 0.9653 |
| Other (population not assigned) | – | 0.8081 |
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