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rs745594160

From SNPedia

ClinVar
Risk rs745594160(A;A)
Alt rs745594160(A;A)
Reference rs745594160(;)
Significance Pathogenic
Disease Adenine phosphoribosyltransferase deficiency
Variation info
Gene APRT
CLNDBN Adenine phosphoribosyltransferase deficiency
Reversed 0
HGVS NC_000016.9:g.88876476dupA
CLNSRC
CLNACC RCV000192216.1,