rs3738579 represents a SNP in the 5' UTR region upstream of the RNASEL gene.
A study of patients diagnosed with carcinoma of the uterine cervix, head and neck squamous cell carcinomas (HNSCC), and breast cancer found 1.5x-2x increased risk for all three cancer types for the rs3738579(T;T) genotype, while finding decreased risk (0.5x) for rs3738579(C;T) heterozygotes.
rs3738579(C;C) homozygotes had 0.6x less risk for cervical cancer but increased risk for HNSCC (1.4x) and breast cancer (1.8x).
A combination of data from all three cancer forms over all genotypes provided strong statistical evidence for rs3738579 as a cancer marker, with a p-value of 4.43x10(-5).
Frequency: 38.1%
Magnitude: 3