Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16891982
rs16891982
CUI: C0025202
Disease: melanoma
melanoma
0.750 GeneticVariation BEFREE The correlation of the rs16891982 SNP in the SLC45A2 gene with melanoma was used as a case study for analysis of disease risk, and the results were consistent with the incidence and mortality rates of melanoma in published scientific literature. 23786662

2013

dbSNP: rs16891982
rs16891982
CUI: C0025202
Disease: melanoma
melanoma
0.750 GeneticVariation BEFREE In conclusion, our results show without ambiguity that in South European populations, MC1R RHC and SCL45A2 p.Phe374Leu variants are strong melanoma risk predictors, notably in those individuals who would not be identified as high risk based on their phenotypes or exposures alone. 22464347

2012

dbSNP: rs16891982
rs16891982
CUI: C0025202
Disease: melanoma
melanoma
0.750 GeneticVariation BEFREE A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. 19578363

2009

dbSNP: rs16891982
rs16891982
CUI: C0025202
Disease: melanoma
melanoma
0.750 GeneticVariation BEFREE Interestingly, the SLC45A2 variant p.Phe374Leu was significantly and strongly protective for melanoma (P-value=2.12.10(-15); OR=0.35 [95% CI=0.26-0.46] and OR=0.32 [95% CI=0.24-0.43], considering the genotypes Phe/Leu and Leu/Leu, respectively). 18683857

2008

dbSNP: rs16891982
rs16891982
CUI: C0025202
Disease: melanoma
melanoma
0.750 GeneticVariation BEFREE We found that the variant allele of c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 (membrane associated transporter previously known as MATP) was associated with protection from MM (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing). 18563784

2008