Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121964954
rs121964954
ETFDH
3 0.882 0.160 4 158682269 missense variant G/A snv 1.4E-04 3.5E-05 0.830 1.000 12 2003 2019
dbSNP: rs398124152
rs398124152
ETFDH
1 1.000 0.080 4 158706270 missense variant C/T snv 4.4E-05 5.6E-05 0.800 1.000 7 2003 2016
dbSNP: rs121964956
rs121964956
ETFDH
2 0.925 0.080 4 158682399 missense variant T/A;C snv 8.0E-06; 4.0E-06 0.800 1.000 6 2003 2010
dbSNP: rs387907170
rs387907170
ETFDH
3 0.925 0.080 4 158703436 missense variant T/C snv 4.0E-06 0.800 1.000 6 2003 2010
dbSNP: rs119458970
rs119458970
ETFA
2 0.925 0.080 15 76274431 missense variant G/A snv 4.4E-05 7.7E-05 0.800 1.000 4 1992 2016
dbSNP: rs377656387
rs377656387
ETFDH
2 0.925 0.080 4 158706351 missense variant C/T snv 2.4E-05 2.8E-05 0.800 1.000 4 2007 2014
dbSNP: rs377686388
rs377686388
ETFDH
1 1.000 0.080 4 158699015 missense variant T/C snv 2.4E-05 2.8E-05 0.800 1.000 2 2003 2007
dbSNP: rs779896449
rs779896449
ETFDH
1 1.000 0.080 4 158684599 missense variant T/G snv 8.0E-06 1.4E-05 0.800 0
dbSNP: rs549150456
rs549150456
ETFDH
1 1.000 0.080 4 158684649 missense variant A/G snv 4.0E-06 0.710 1.000 1 2019 2019
dbSNP: rs121964955
rs121964955
ETFDH
2 0.925 0.080 4 158685137 missense variant G/A;C;T snv 1.6E-05; 8.0E-06 0.700 1.000 6 2003 2010
dbSNP: rs761669036
rs761669036
ETFDH
1 1.000 0.080 4 158708505 missense variant G/A snv 2.8E-05 2.1E-05 0.700 1.000 6 2003 2010
dbSNP: rs887871605
rs887871605
ETFDH
1 1.000 0.080 4 158682264 missense variant C/T snv 7.0E-06 0.700 1.000 6 2003 2010
dbSNP: rs200920510
rs200920510
ETFDH
1 1.000 0.080 4 158706761 missense variant C/T snv 2.4E-05 1.4E-05 0.700 1.000 3 2008 2012
dbSNP: rs780768015
rs780768015
ETFDH
1 1.000 0.080 4 158706691 missense variant G/A snv 2.0E-05 1.5E-04 0.700 1.000 3 2012 2014
dbSNP: rs796051964
rs796051964
ETFDH
1 1.000 0.080 4 158680482 frameshift variant -/T delins 0.700 1.000 3 2003 2007
dbSNP: rs104894677
rs104894677
ETFB
2 0.925 0.080 19 51347006 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 2 1994 2003
dbSNP: rs104894678
rs104894678
ETFB
2 0.925 0.080 19 51350385 missense variant C/T snv 1.7E-05 2.1E-05 0.700 1.000 2 1994 2003
dbSNP: rs746598421
rs746598421
ETFDH
1 1.000 0.080 4 158706317 missense variant G/A snv 3.6E-05 0.700 1.000 2 2003 2012
dbSNP: rs767046886
rs767046886
ETFDH
1 1.000 0.080 4 158703592 splice donor variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2006 2013
dbSNP: rs773668457
rs773668457
ETFDH
1 1.000 0.080 4 158680553 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 1.000 2 2003 2014
dbSNP: rs771466122
rs771466122
LENEP ; FLAD1
2 0.925 0.080 1 154992746 missense variant C/T snv 1.6E-05 4.9E-05 0.700 1.000 1 2016 2016
dbSNP: rs876661309
rs876661309
FLAD1
2 0.925 0.080 1 154990456 inframe deletion CCT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs876661310
rs876661310
FLAD1
2 0.925 0.080 1 154988299 frameshift variant -/GC delins 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs876661311
rs876661311
FLAD1
2 0.925 0.080 1 154988567 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs876661312
rs876661312
FLAD1
2 0.925 0.080 1 154988258 frameshift variant GCAGGGGGCATC/CA delins 0.700 1.000 1 2016 2016