From SNPedia
| ? | (C;C) (C;G) (G;G) | 28 |
|---|
 |
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]
| Venter snp
|
| Source
| plos
|
| Gene
| SLC45A2
|
| allele
| G
|
| frequency
| 1
|
| sift
|
|
| HuRef
| 1103654071247
|
| Disease Association
| Defects in SLC45A2 are the cause of oculocutaneous albinism type 4 (OCA4) (MIM:606574). OCA4 is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. It leads to reduced visual acuity.
|
Related to SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2
according to
omim 606202. See
also
| PharmGKB | PA162316705 |
| Name | SLC45A2: 1122C>G, Phe374Leu |
| Annotation | This variant is associated with protection from malignant melanoma. |
| Gene | SLC45A2 |
| Featue | |
| Evidence | PubMed ID:18563784 |
| Drugs | |
| Diseases | Melanoma |
| Curation Level | Curated |
[PMID 19710684] Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma
| GWAS snp
|
| PMID
| [PMID 20585627]
|
| Trait
| Eye color
|
| Title
| Web-based, participant-driven studies yield novel genetic associations for common traits
|
| Risk Allele
| C
|
| P-val
| 1E-12
|
| Odds Ratio
| 0.84 [NR] unit increase
|
