rs4911414
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | normal |
| (G;T) | 2 | 2-4x higher risk of sun sensitivity if part of risk haplotype |
| (T;T) | 2 | 2-4x higher risk of sun sensitivity if part of risk haplotype |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 34141638 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4911414 |
| dbSNP (classic) | rs4911414 |
| ClinGen | rs4911414 |
| ebi | rs4911414 |
| HLI | rs4911414 |
| Exac | rs4911414 |
| Gnomad | rs4911414 |
| Varsome | rs4911414 |
| LitVar | rs4911414 |
| Map | rs4911414 |
| PheGenI | rs4911414 |
| Biobank | rs4911414 |
| 1000 genomes | rs4911414 |
| hgdp | rs4911414 |
| ensembl | rs4911414 |
| geneview | rs4911414 |
| scholar | rs4911414 |
| rs4911414 | |
| pharmgkb | rs4911414 |
| gwascentral | rs4911414 |
| openSNP | rs4911414 |
| 23andMe | rs4911414 |
| SNPshot | rs4911414 |
| SNPdbe | rs4911414 |
| MSV3d | rs4911414 |
| GWAS Ctlg | rs4911414 |
| GMAF | 0.2305 |
| Max Magnitude | 2 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
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]
| GWAS | |
|---|---|
| SNP | rs1015362,rs4911414 |
| PubMedID | [PMID 18488028] |
| Condition | Skin sensitivity to sun |
| Gene | ASIP |
| Risk Allele | T |
| pValue | 2.00E-024 |
| OR | 1.76 |
| 95% CI | 1.49-2.08 |
[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 20585627] Web-based, participant-driven studies yield novel genetic associations for common traits.
| GWAS snp | |
|---|---|
| PMID | [PMID 23548203]
|
| Trait | Tanning |
| Title | Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. |
| Risk Allele | G |
| P-val | 4E-9 |
| Odds Ratio | .07 [0.050-0.090] unit decrease |
[PMID 22628150] Variants at chromosome 20 (ASIP locus) and melanoma risk.
