Rs16990018

The importance of this codon has been reclassified based on further research. Normally Asn, the Asn171Ser variant was identified in a patient with Prion disease,, and further research indicated that it may be associated with temporal lobe epilepsy.

However, more recent research has indicated that the N171S variant is present in healthy members of numerous populations, reaching penetrance of 11% in Biaka Pygmies and 5% in Jamaicans. Thus this polymorphism is considered of unknown significance.