Source: CURATED

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: rs750941135
rs750941135
ACADS
1.000 0.080 12 120727085 frameshift variant -/A delins 4.0E-06; 1.6E-05 7.0E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 0
dbSNP: rs1057516606
rs1057516606
ACADS
1.000 0.080 12 120738643 frameshift variant -/C delins 7.0E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 0
dbSNP: rs765758808
rs765758808
ACADS
1.000 0.080 12 120725913 frameshift variant -/CGGGCCC delins 6.2E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 0
dbSNP: rs1057516436
rs1057516436
ACADS
1.000 0.080 12 120738326 frameshift variant -/G delins
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 0
dbSNP: rs1057517155
rs1057517155
ACADS
1.000 0.080 12 120739141 frameshift variant A/- del
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 0
dbSNP: rs387906950
rs387906950
ACADS
1.000 0.080 12 120739141 missense variant A/G snv 1.0E-04 1.4E-05
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 3 2008 2011
dbSNP: rs3021338
rs3021338
ACADS
12 120725186 upstream gene variant A/G snv 0.38
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs3021338
rs3021338
ACADS
12 120725186 upstream gene variant A/G snv 0.38
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs9204
rs9204
ACADS
12 120739975 3 prime UTR variant A/G snv 0.30
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1057516231
rs1057516231
ACADS
1.000 0.080 12 120737835 splice acceptor variant A/G snv
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 0
dbSNP: rs1291226969
rs1291226969
ACADS
1.000 0.080 12 120725886 start lost A/G snv 6.4E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 0
dbSNP: rs1057516385
rs1057516385
ACADS
1.000 0.080 12 120737090 frameshift variant C/- del
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 0
dbSNP: rs1057516848
rs1057516848
ACADS
1.000 0.080 12 120737891 stop gained C/A snv
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 1 2012 2012
dbSNP: rs11065231
rs11065231
ACADS
12 120731553 intron variant C/A snv 0.51
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs2239760
rs2239760
ACADS
12 120725715 upstream gene variant C/A snv 0.40
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2239760
rs2239760
ACADS
12 120725715 upstream gene variant C/A snv 0.40
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs140853839
rs140853839
ACADS
1.000 0.080 12 120738874 missense variant C/A;T snv 4.0E-06; 1.4E-04
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 4 2006 2016
dbSNP: rs28940875
rs28940875
ACADS
1.000 0.080 12 120739347 missense variant C/G;T snv 4.0E-06; 9.3E-05
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.800 1.000 9 1990 2018
dbSNP: rs752677472
rs752677472
ACADS
1.000 0.080 12 120737404 stop gained C/G;T snv 3.2E-05; 4.0E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 2 2003 2003
dbSNP: rs541587321
rs541587321
ACADS
1.000 0.080 12 120739194 stop gained C/G;T snv 8.1E-06 7.0E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 0
dbSNP: rs749491616
rs749491616
ACADS
1.000 0.080 12 120737364 stop gained C/G;T snv 8.0E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 0
dbSNP: rs28940872
rs28940872
ACADS
1.000 0.080 12 120739356 missense variant C/T snv 9.7E-05 7.7E-05
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.800 1.000 11 1990 2017
dbSNP: rs61732144
rs61732144
ACADS
1.000 0.080 12 120737094 missense variant C/T snv 9.7E-04 5.4E-04
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.800 1.000 10 1990 2014
dbSNP: rs121908003
rs121908003
ACADS
1.000 0.080 12 120727115 missense variant C/T snv 1.6E-04 1.1E-04
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.800 1.000 7 1990 2017
dbSNP: rs28941773
rs28941773
ACADS
0.925 0.120 12 120739168 missense variant C/T snv 2.0E-04 2.0E-04
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.800 1.000 7 1990 2011