rs4151620(C;G) and rs4151620(G;G) are associated with a reduced risk of ovarian cancer compared with rs4151620(G;G) individuals.

This snp has been linked to ovarian cancer [PMID 17047088]

Intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk [PMID 16685266]

[PMID 18281541] Effects of common germ-line genetic variation in cell cycle genes on ovarian cancer survival.

[PMID 19258477] Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.


Parent Gene: RB1

Importance: 1
Less common allele: G = 10%
More common allele: C = 90%
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