Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs120074147
rs120074147
ACAT1
1.000 0.080 11 108144039 missense variant G/C snv 7.4E-06
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.810 1.000 1 1991 2019
dbSNP: rs148639841
rs148639841
ACAT1
1.000 0.080 11 108138934 missense variant A/C;G snv 4.0E-06; 6.0E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.810 0.833 1 1991 2019
dbSNP: rs532190594
rs532190594
ACAT1
1.000 0.080 11 108140107 stop gained C/A;T snv 8.0E-06; 1.2E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.710 1.000 1 2010 2019
dbSNP: rs373771053
rs373771053
ACAT1
1.000 0.080 11 108146320 missense variant A/G snv 2.8E-05 2.1E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.010 1.000 1 2008 2008