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: rs778906552
rs778906552
ACADM
1 1.000 0.080 1 75734846 missense variant G/A snv 1.4E-04 2.8E-05 0.700 1.000 4 2008 2012
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: rs760892123
rs760892123
ACADM
1 1.000 0.080 1 75762744 missense variant T/C snv 2.0E-05 5.6E-05 0.700 1.000 3 2010 2016
dbSNP: rs768884003
rs768884003
ACADM
1 1.000 0.080 1 75749467 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 3 2010 2016
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
dbSNP: rs1225471006
rs1225471006
ACADM
1 1.000 0.080 1 75761173 stop gained -/TAGAATGAGTTAC delins 3.2E-05 2.8E-05 0.700 1.000 2 1984 1991
dbSNP: rs1462472677
rs1462472677
ACADM
1 1.000 0.080 1 75762704 missense variant A/G;T snv 4.0E-06 0.700 1.000 2 2010 2017
dbSNP: rs148207467
rs148207467
ACADM
1 1.000 0.080 1 75761221 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 1994 2014
dbSNP: rs148260275
rs148260275
ACADM
1 1.000 0.080 1 75740112 splice donor variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 2 2005 2010
dbSNP: rs1553127172
rs1553127172
ACADM
1 1.000 0.080 1 75761165 frameshift variant TTGAACTAGCTAGAATGAGTTA/- del 0.700 1.000 2 1994 2010
dbSNP: rs753928772
rs753928772
ACADM
1 1.000 0.080 1 75762754 stop gained C/A;T snv 3.6E-05 0.700 1.000 2 2010 2014
dbSNP: rs765793260
rs765793260
ACADM
1 1.000 0.080 1 75761116 splice region variant T/G snv 8.0E-05 1.4E-05 0.700 1.000 2 2011 2012
dbSNP: rs769331400
rs769331400
ACADM
1 1.000 0.080 1 75761371 splice donor variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs1057516278
rs1057516278
ACADM
1 1.000 0.080 1 75761289 frameshift variant -/G delins 0.700 1.000 1 2012 2012
dbSNP: rs1057516801
rs1057516801
ACADM
1 1.000 0.080 1 75732742 splice donor variant G/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1057517103
rs1057517103
ACADM
1 1.000 0.080 1 75761131 frameshift variant AT/- delins 0.700 1.000 1 1997 1997
dbSNP: rs1215335509
rs1215335509
ACADM
1 1.000 0.080 1 75750514 stop gained G/A;T snv 0.710 1.000 1 2001 2001
dbSNP: rs1348176225
rs1348176225
ACADM
1 1.000 0.080 1 75749427 missense variant C/A;G snv 0.700 1.000 1 2014 2014
dbSNP: rs1430502318
rs1430502318
LRP2
1 1.000 0.080 2 169289083 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2010 2010