Rs1047883

From SNPedia

Venter snp
Source	plos
Gene	CPS1
allele	T
frequency
sift	AFFECT FUNCTION
HuRef	1103658353580
Disease Association	Defects in CPS1 are the cause of CPS1 deficiency (MIM:237300); an autosomal recessive metabolic disorder that cause a type of hyperammonemia. Clinical symptoms are vomiting in infancy, protein intolerance, intermittent ataxia, seizures, lethargy, and mental retardation.