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: 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: 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: 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: 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: rs11559290
rs11559290
ETFDH
1 1.000 0.080 4 158680524 missense variant C/T snv 0.82 0.68 0.010 1.000 1 2019 2019
dbSNP: rs1166778729
rs1166778729
TXNRD1
1 1.000 0.080 12 104315822 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
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: rs876661314
rs876661314
FLAD1
1 1.000 0.080 1 154984015 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs876661315
rs876661315
FLAD1
1 1.000 0.080 1 154988230 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs1298299792
rs1298299792
ETFA
1 1.000 0.080 15 76286437 frameshift variant AC/- delins 1.2E-05 0.700 0
dbSNP: rs1358691961
rs1358691961
ETFDH
1 1.000 0.080 4 158699051 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1442766122
rs1442766122
ETFDH
1 1.000 0.080 4 158706228 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1466787789
rs1466787789
ETFDH
1 1.000 0.080 4 158703447 missense variant G/C snv 0.700 0
dbSNP: rs1482632936
rs1482632936
ETFDH
1 1.000 0.080 4 158690406 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs398124151
rs398124151
ETFDH
1 1.000 0.080 4 158703540 stop gained G/T snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs748289922
rs748289922
ETFDH
1 1.000 0.080 4 158690393 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs751821289
rs751821289
ETFDH
1 1.000 0.080 4 158706269 missense variant C/T snv 4.0E-06 2.8E-05 0.700 0
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: rs796051962
rs796051962
ETFDH
1 1.000 0.080 4 158682314 frameshift variant -/GT delins 0.700 0