From SNPedia
rs4911414 is a SNP near the ASIP (agouti signaling protein) gene on chromosome 20.
This SNP is one of a tightly-linked pair that increases the likelihood of an individual being prone to sun sensitivity, in other words, freckles and sunburn, based on a study of 6,000+ Caucasians (5,000+ Icelanders + 1,000+ Dutch). The odds ratios, presumably on a dominant basis, and at least in the largest population (Icelanders) for "freckles and burns vs. no freckles and tans" for the haplotype pair rs1015362(G) - rs4911414(T) is 3.91 (CI: 2.54-6.03) for males and 2.42 (CI: 1.52-3.86) for females, with an overall p=0.051.[PMID 18488028]
Based on a study by the same authors of 4,000+ skin cancer patients, this haplotype was seen to confer significant increased risk for cutaneous malignant melanoma (odds ratio 1.45, p = 1.2 x 10-9) as well as basal cell carcinoma (odds ratio 1.33, p = 1.2 x 10-6).[PMID 18488027]
| ? | (G;G) (G;T) (T;T) |
|---|
 |
[PMID 19384953] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians
Related to MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7
according to
omim 612263. See
also
Related to SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9
according to
omim 611742. See
also
Related to AGOUTI SIGNALING PROTEIN; ASIP
according to
omim 600201. See
also
| PharmGKB | PA162355809 |
| Name | |
| Annotation | This variant is associated with the risk of cutaneous melanoma and basal cell carcinoma. It is also associated blue vs green eyes and skin sensitivity to sun. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:18488027 |
| Drugs | |
| Diseases | Carcinoma, Basal Cell, Melanoma |
| Curation Level | Curated |
