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: 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: 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: rs35233375
rs35233375
ACADS
12 120739357 missense variant G/A snv 7.0E-06
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs35233375
rs35233375
ACADS
12 120739357 missense variant G/A snv 7.0E-06
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs35233375
rs35233375
ACADS
12 120739357 missense variant G/A snv 7.0E-06
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3794214
rs3794214
ACADS
12 120730442 intron variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3794215
rs3794215
ACADS
12 120730280 intron variant T/C snv 0.51
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3914
rs3914
ACADS
12 120737096 synonymous variant T/C snv 0.52 0.52
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3916
rs3916
ACADS
12 120739469 3 prime UTR variant G/C;T snv 0.27; 8.7E-06
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3999408
rs3999408
ACADS
12 120729584 intron variant C/T snv 0.25
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs487915
rs487915
ACADS
12 120738746 intron variant C/T snv 5.4E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
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: 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: 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