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: 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: 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: rs875989860
rs875989860
ACADM
1 1.000 0.080 1 75762717 frameshift variant AA/- delins 1.4E-05 0.700 0
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: rs1553127378
rs1553127378
ACADM
1 1.000 0.080 1 75762691 splice acceptor variant G/C snv 0.700 0
dbSNP: rs879234543
rs879234543
ACADM
1 1.000 0.080 1 75762690 splice acceptor variant A/C;T snv 0.700 0
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: rs1553127216
rs1553127216
ACADM
1 1.000 0.080 1 75761366 missense variant A/C snv 0.700 1.000 3 2007 2016
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: rs875989877
rs875989877
ACADM
1 1.000 0.080 1 75761364 frameshift variant -/T delins 0.700 0
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: rs121434275
rs121434275
ACADM
1 1.000 0.080 1 75761300 missense variant T/C snv 7.0E-06 0.800 1.000 16 1990 2001
dbSNP: rs1057516278
rs1057516278
ACADM
1 1.000 0.080 1 75761289 frameshift variant -/G delins 0.700 1.000 1 2012 2012
dbSNP: rs387906297
rs387906297
ACADM
1 1.000 0.080 1 75761276 frameshift variant TTAG/- delins 0.700 1.000 3 1992 2010
dbSNP: rs1057517411
rs1057517411
ACADM
1 1.000 0.080 1 75761247 frameshift variant A/- delins 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: rs766140986
rs766140986
ACADM
1 1.000 0.080 1 75761228 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
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: rs1057516463
rs1057516463
ACADM
1 1.000 0.080 1 75761221 frameshift variant C/- del 0.700 0
dbSNP: rs796051896
rs796051896
ACADM
1 1.000 0.080 1 75761188 stop gained C/G;T snv 0.700 0
dbSNP: rs875989874
rs875989874
ACADM
1 1.000 0.080 1 75761187 stop gained -/TAGAATGAGTTAC delins 0.700 0
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: rs1553127172
rs1553127172
ACADM
1 1.000 0.080 1 75761165 frameshift variant TTGAACTAGCTAGAATGAGTTA/- del 0.700 1.000 2 1994 2010
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: rs747610156
rs747610156
ACADM
1 1.000 0.080 1 75761160 frameshift variant G/- del 0.700 0