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: rs766173642
rs766173642
ACADM
1 1.000 0.080 1 75732899 frameshift variant CA/-;CACA delins 4.0E-06 0.700 0
dbSNP: rs1553122996
rs1553122996
ACADM
1 1.000 0.080 1 75732924 splice donor variant T/G snv 0.700 0
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: rs875989873
rs875989873
ACADM
1 1.000 0.080 1 75733560 frameshift variant ATTA/- delins 0.700 0
dbSNP: rs746136472
rs746136472
ACADM
1 1.000 0.080 1 75733561 missense variant T/C snv 1.2E-05 7.0E-06 0.700 1.000 4 2004 2010
dbSNP: rs864621963
rs864621963
ACADM
1 1.000 0.080 1 75733583 inframe deletion GGATGT/- delins 0.700 0
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: rs786204424
rs786204424
ACADM
1 1.000 0.080 1 75733625 splice donor variant G/- delins 0.700 1.000 5 2005 2012
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: rs764942250
rs764942250
ACADM
1 1.000 0.080 1 75734788 splice region variant T/G snv 4.0E-05 0.700 0
dbSNP: rs875989854
rs875989854
ACADM
2 0.925 0.160 1 75734798 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs886042087
rs886042087
ACADM
1 1.000 0.080 1 75734825 frameshift variant AAA/-;AA delins 2.1E-05 0.700 0
dbSNP: rs875989857
rs875989857
ACADM
1 1.000 0.080 1 75734827 inframe deletion AAG/- delins 0.700 1.000 5 2010 2017
dbSNP: rs777998984
rs777998984
ACADM
1 1.000 0.080 1 75734829 frameshift variant G/- del 1.6E-05 2.8E-05 0.700 0
dbSNP: rs1057517356
rs1057517356
ACADM
1 1.000 0.080 1 75734833 frameshift variant AGTA/- delins 0.700 1.000 6 2004 2017
dbSNP: rs749529577
rs749529577
ACADM
1 1.000 0.080 1 75734838 frameshift variant T/- delins 4.0E-06 0.700 0
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: rs786204642
rs786204642
ACADM
1 1.000 0.080 1 75734849 frameshift variant CTGA/- delins 0.700 1.000 4 2005 2015
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: rs1557446524
rs1557446524
ACADM
1 1.000 0.080 1 75734857 stop gained G/T snv 0.700 0
dbSNP: rs875989876
rs875989876
ACADM
1 1.000 0.080 1 75734867 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs1553123857
rs1553123857
ACADM
1 1.000 0.080 1 75739978 splice acceptor variant A/C snv 0.700 0
dbSNP: rs875989869
rs875989869
ACADM
1 1.000 0.080 1 75739979 splice acceptor variant G/A snv 0.700 0
dbSNP: rs754359356
rs754359356
ACADM
1 1.000 0.080 1 75740069 missense variant T/A;C snv 8.0E-06 0.700 0