Rs36053993

rs36053993, also known as Gly396Asp, is one of the two most common pathogenic mutations in the MUTYH gene. The risk allele is rs36053993(A), as oriented in accordance with dbSNP. (Mutation nomenclature according to Genbank accession number NM_001128425.1 c.1187G>A, p.Gly396Asp; numbering differences can lead to alternative designations including Gly368Asp, Gly369Asp, Gly382Asp, or Gly393Asp.)

People with two copies of a single mutation in the MUTYH gene are at higher risk of developing multiple adenomatous polyps and colorectal cancer.