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: rs77931234
rs77931234
ACADM
3 0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03 0.900 1.000 58 1990 2020
dbSNP: rs200724875
rs200724875
ACADM ; DLSTP1
1 1.000 0.080 1 75745823 missense variant G/A;T snv 1.6E-05 0.800 1.000 25 1990 2018
dbSNP: rs786204631
rs786204631
ACADM
1 1.000 0.080 1 75761153 missense variant T/C snv 0.800 1.000 19 1990 2012
dbSNP: rs875989859
rs875989859
ACADM
1 1.000 0.080 1 75733588 missense variant G/A snv 8.0E-06 0.800 1.000 18 1990 2010
dbSNP: rs121434283
rs121434283
ACADM
1 1.000 0.080 1 75733603 missense variant C/T snv 1.2E-05 0.800 1.000 17 1990 2007
dbSNP: rs121434276
rs121434276
ACADM
1 1.000 0.080 1 75749440 missense variant T/C snv 0.800 1.000 16 1990 2001
dbSNP: rs121434277
rs121434277
ACADM
1 1.000 0.080 1 75734850 missense variant G/A;T snv 8.0E-06 0.800 1.000 16 1990 2001
dbSNP: rs121434279
rs121434279
ACADM
1 1.000 0.080 1 75740088 missense variant A/G snv 0.800 1.000 16 1990 2001
dbSNP: rs121434282
rs121434282
ACADM
1 1.000 0.080 1 75749552 missense variant G/C snv 4.0E-06 0.800 1.000 16 1990 2001
dbSNP: rs398123072
rs398123072
ACADM
1 1.000 0.080 1 75732682 missense variant C/G;T snv 3.2E-05 0.700 1.000 8 1993 2016
dbSNP: rs786204566
rs786204566
ACADM
1 1.000 0.080 1 75732879 frameshift variant -/T delins 0.700 1.000 7 2001 2012
dbSNP: rs1057517356
rs1057517356
ACADM
1 1.000 0.080 1 75734833 frameshift variant AGTA/- delins 0.700 1.000 6 2004 2017
dbSNP: rs770273135
rs770273135
ACADM ; DLSTP1
2 0.925 0.080 1 75745904 missense variant T/A;C snv 4.0E-06; 8.0E-06 0.700 1.000 6 2001 2017
dbSNP: rs786204424
rs786204424
ACADM
1 1.000 0.080 1 75733625 splice donor variant G/- delins 0.700 1.000 5 2005 2012
dbSNP: rs875989857
rs875989857
ACADM
1 1.000 0.080 1 75734827 inframe deletion AAG/- delins 0.700 1.000 5 2010 2017
dbSNP: rs759158371
rs759158371
ACADM
1 1.000 0.080 1 75761365 missense variant T/A snv 3.6E-05 0.700 1.000 4 2007 2016
dbSNP: rs773677327
rs773677327
ACADM
1 1.000 0.080 1 75740091 missense variant A/G snv 2.0E-05 0.700 1.000 4 2008 2016
dbSNP: rs780504551
rs780504551
ACADM
1 1.000 0.080 1 75749553 missense variant A/T snv 4.0E-06 0.700 1.000 4 2005 2016
dbSNP: rs786204642
rs786204642
ACADM
1 1.000 0.080 1 75734849 frameshift variant CTGA/- delins 0.700 1.000 4 2005 2015
dbSNP: rs1553127216
rs1553127216
ACADM
1 1.000 0.080 1 75761366 missense variant A/C snv 0.700 1.000 3 2007 2016
dbSNP: rs387906297
rs387906297
ACADM
1 1.000 0.080 1 75761276 frameshift variant TTAG/- delins 0.700 1.000 3 1992 2010
dbSNP: rs398123075
rs398123075
ACADM
1 1.000 0.080 1 75732889 missense variant G/A;C;T snv 4.0E-06 0.710 1.000 3 2004 2010
dbSNP: rs758753966
rs758753966
ACADM
1 1.000 0.080 1 75761120 splice acceptor variant A/C snv 8.0E-06 0.700 1.000 3 2006 2014
dbSNP: rs1057516983
rs1057516983
ACADM
1 1.000 0.080 1 75733629 splice donor variant G/A;T snv 0.700 1.000 2 2001 2015
dbSNP: rs1057518677
rs1057518677
ACADM
1 1.000 0.080 1 75733526 splice acceptor variant A/G snv 0.700 1.000 2 2005 2010