|(A;A)||1.9||Probably tans instead of freckles and sunburns.|
|(A;G)||2||2-4x higher risk of sun sensitivity if part of risk haplotype.|
|(G;G)||2||2-4x higher risk of sun sensitivity if part of risk haplotype.|
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]
|Condition||Skin sensitivity to sun|
[PMID 19384953] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians
[PMID 21221757] ASIP genetic variants and the number of non-melanoma skin cancers
[PMID 19995372] Melanoma susceptibility variants on chromosome 20q11.22 are associated with pigmentary traits and the risk of nonmelanoma skin cancer.
[PMID 20369022] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 22628150] Variants at chromosome 20 (ASIP locus) and melanoma risk.