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: rs1057517103
rs1057517103
ACADM
1 1.000 0.080 1 75761131 frameshift variant AT/- delins 0.700 1.000 1 1997 1997
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: rs748110745
rs748110745
ACADM
1 1.000 0.080 1 75761326 stop gained G/T snv 8.0E-06 7.0E-06 0.700 1.000 1 1994 1994
dbSNP: rs757434857
rs757434857
ACADM
1 1.000 0.080 1 75732659 missense variant A/G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs761317029
rs761317029
ACADM
1 1.000 0.080 1 75750449 splice acceptor variant A/G snv 8.2E-06 0.700 1.000 1 2005 2005
dbSNP: rs1057516463
rs1057516463
ACADM
1 1.000 0.080 1 75761221 frameshift variant C/- del 0.700 0
dbSNP: rs1057516480
rs1057516480
ACADM
1 1.000 0.080 1 75732860 frameshift variant T/- del 0.700 0
dbSNP: rs1057516485
rs1057516485
ACADM
1 1.000 0.080 1 75761135 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057516564
rs1057516564
ACADM
1 1.000 0.080 1 75761125 stop gained C/T snv 0.700 0
dbSNP: rs1057516778
rs1057516778
ACADM ; SLC44A5
1 1.000 0.080 1 75724788 start lost A/G snv 0.700 0
dbSNP: rs1057517179
rs1057517179
ACADM
1 1.000 0.080 1 75732694 frameshift variant AG/- delins 0.700 0
dbSNP: rs1057517411
rs1057517411
ACADM
1 1.000 0.080 1 75761247 frameshift variant A/- delins 0.700 0
dbSNP: rs113887538
rs113887538
ACADM
1 1.000 0.080 1 75728489 splice donor variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1227800781
rs1227800781
ACADM
1 1.000 0.080 1 75761231 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1319192670
rs1319192670
ACADM
1 1.000 0.080 1 75732688 frameshift variant T/- delins 7.0E-06 0.700 0
dbSNP: rs1325949559
rs1325949559
ACADM
1 1.000 0.080 1 75728417 frameshift variant C/- del 0.700 0
dbSNP: rs149678400
rs149678400
ACADM ; DLSTP1
1 1.000 0.080 1 75745889 missense variant C/A;T snv 2.9E-04; 4.0E-06 0.700 0
dbSNP: rs1553121887
rs1553121887
ACADM ; SLC44A5
1 1.000 0.080 1 75724790 start lost G/C snv 0.700 0
dbSNP: rs1553122996
rs1553122996
ACADM
1 1.000 0.080 1 75732924 splice donor variant T/G snv 0.700 0
dbSNP: rs1553123857
rs1553123857
ACADM
1 1.000 0.080 1 75739978 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1553124805
rs1553124805
ACADM ; DLSTP1
1 1.000 0.080 1 75745916 splice donor variant T/G snv 0.700 0
dbSNP: rs1553125211
rs1553125211
ACADM
1 1.000 0.080 1 75749417 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1553125264
rs1553125264
ACADM
1 1.000 0.080 1 75749536 frameshift variant GCT/CC delins 0.700 0
dbSNP: rs1553127378
rs1553127378
ACADM
1 1.000 0.080 1 75762691 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1557446524
rs1557446524
ACADM
1 1.000 0.080 1 75734857 stop gained G/T snv 0.700 0