ACACA, acetyl-CoA carboxylase alpha, 31

N. diseases: 241; N. variants: 26
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12453407
rs12453407
17 37232521 intron variant A/G snv 0.65
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1266175
rs1266175
17 37111115 intron variant A/G snv 0.54
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2229416
rs2229416
17 37252940 synonymous variant C/T snv 0.18 0.12
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs9906543
rs9906543
17 37162308 intron variant T/A;C snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009