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rs200754713

From SNPedia

rs200754713, also known as Y231C or Tyr231Cys, is a SNP in the presenilin 2 PSEN2 gene.

The rare rs200754713(G) allele is considered pathogenic as an autosomal dominant for Frontotemporal Dementia; a patient with this allele was described as exhibiting behavioral abnormalities and language impairment.[PMID 19276543]