Source: UNIPROT

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: rs121964954
rs121964954
ETFDH
0.882 0.160 4 158682269 missense variant G/A snv 1.4E-04 3.5E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.830 1.000 6 2003 2019
dbSNP: rs121964956
rs121964956
ETFDH
0.925 0.080 4 158682399 missense variant T/A;C snv 8.0E-06; 4.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 1.000 6 2003 2010
dbSNP: rs387907170
rs387907170
ETFDH
0.925 0.080 4 158703436 missense variant T/C snv 4.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 1.000 6 2003 2010
dbSNP: rs119458970
rs119458970
ETFA
0.925 0.080 15 76274431 missense variant G/A snv 4.4E-05 7.7E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 1.000 0 1992 2016
dbSNP: rs377656387
rs377656387
ETFDH
0.925 0.080 4 158706351 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 1.000 0 2007 2014
dbSNP: rs377686388
rs377686388
ETFDH
1.000 0.080 4 158699015 missense variant T/C snv 2.4E-05 2.8E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 1.000 0 2003 2007
dbSNP: rs398124152
rs398124152
ETFDH
1.000 0.080 4 158706270 missense variant C/T snv 4.4E-05 5.6E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 1.000 0 2003 2016
dbSNP: rs779896449
rs779896449
ETFDH
1.000 0.080 4 158684599 missense variant T/G snv 8.0E-06 1.4E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 0
dbSNP: rs121964955
rs121964955
ETFDH
0.925 0.080 4 158685137 missense variant G/A;C;T snv 1.6E-05; 8.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 1.000 6 2003 2010
dbSNP: rs761669036
rs761669036
ETFDH
1.000 0.080 4 158708505 missense variant G/A snv 2.8E-05 2.1E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 1.000 6 2003 2010
dbSNP: rs887871605
rs887871605
ETFDH
1.000 0.080 4 158682264 missense variant C/T snv 7.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 1.000 6 2003 2010
dbSNP: rs104894677
rs104894677
ETFB
0.925 0.080 19 51347006 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 1.000 2 1994 2003
dbSNP: rs104894678
rs104894678
ETFB
0.925 0.080 19 51350385 missense variant C/T snv 1.7E-05 2.1E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 1.000 2 1994 2003
dbSNP: rs119458969
rs119458969
ETFA
0.925 0.080 15 76286463 missense variant A/C snv 2.0E-05 7.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 0
dbSNP: rs119458971
rs119458971
ETFA
0.925 0.080 15 76292436 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 0
dbSNP: rs1358691961
rs1358691961
ETFDH
1.000 0.080 4 158699051 missense variant A/G snv 4.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 0
dbSNP: rs1482632936
rs1482632936
ETFDH
1.000 0.080 4 158690406 missense variant A/C snv 4.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 0
dbSNP: rs748289922
rs748289922
ETFDH
1.000 0.080 4 158690393 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 0
dbSNP: rs993314323
rs993314323
ETFDH
1.000 0.080 4 158706845 missense variant C/T snv
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.700 0