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rs797044633

From SNPedia

ClinVar
Risk rs797044633(AAA;AAA)
Alt rs797044633(AAA;AAA)
Reference rs797044633(TAAG;TAAG)
Significance Pathogenic
Disease Deficiency of acetyl-CoA acetyltransferase
Variation info
Gene ACAT1
CLNDBN Deficiency of acetyl-CoA acetyltransferase
Reversed 0
HGVS NC_000011.9:g.108016925_108016928delinsAAA
CLNSRC
CLNACC RCV000173953.1,