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: 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: 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: rs57443665
rs57443665
ACADS
1.000 0.080 12 120737893 missense variant T/C;G snv 4.5E-04
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.800 1.000 9 1990 2013
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
dbSNP: rs121908006
rs121908006
ACADS
1.000 0.080 12 120738859 missense variant C/T snv 2.0E-05 6.3E-05
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.800 1.000 3 1990 2001
dbSNP: rs147442301
rs147442301
ACADS
1.000 0.080 12 120727143 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 6 2008 2016
dbSNP: rs368469075
rs368469075
ACADS
1.000 0.080 12 120739304 missense variant G/T snv 3.2E-05 5.6E-05
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 6 2003 2013
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: rs121908004
rs121908004
ACADS
1.000 0.080 12 120737049 missense variant G/T snv 3.5E-05
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 3 1990 2001
dbSNP: rs121908005
rs121908005
ACADS
1.000 0.080 12 120737043 missense variant G/A;T snv 2.1E-05; 4.2E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 3 1990 2001
dbSNP: rs28940874
rs28940874
ACADS
1.000 0.080 12 120737939 missense variant C/T snv 4.4E-05 5.6E-05
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 3 1990 2001
dbSNP: rs387906308
rs387906308
ACADS
1.000 0.080 12 120737081 inframe deletion GAG/- delins
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 3 2001 2018
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: rs2014355
rs2014355
ACADS
0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 2 2010 2013
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: rs1057516421
rs1057516421
ACADS
1.000 0.080 12 120739373 frameshift variant TG/- del 8.1E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 1 2012 2012
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: rs1555244366
rs1555244366
ACADS
1.000 0.080 12 120739196 splice donor variant G/- delins
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 1 2008 2008
dbSNP: rs1799958
rs1799958
ACADS
0.882 0.160 12 120738280 missense variant G/A snv 0.26 0.21
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.700 1.000 1 2018 2018
dbSNP: rs1799958
rs1799958
ACADS
0.882 0.160 12 120738280 missense variant G/A snv 0.26 0.21
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.700 1.000 1 2018 2018
dbSNP: rs1800556
rs1800556
ACADS
1.000 0.080 12 120737875 missense variant C/T snv 2.4E-05; 3.1E-02 3.2E-02
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		0.700 1.000 1 2010 2010
dbSNP: rs2014355
rs2014355
ACADS
0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.700 1.000 1 2018 2018