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: 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: rs201375579
rs201375579
ACADM
1 1.000 0.080 1 75749507 missense variant A/G snv 3.2E-04 1.7E-04 0.700 1.000 6 2005 2014
dbSNP: rs373715782
rs373715782
ACADM ; DLSTP1
1 1.000 0.080 1 75745822 missense variant C/T snv 2.4E-05 1.4E-05 0.700 1.000 6 2005 2014
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: rs762114560
rs762114560
ACADM
1 1.000 0.080 1 75732886 missense variant C/T snv 7.2E-05 7.0E-05 0.700 1.000 5 2006 2012
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: 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: 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: rs1553127216
rs1553127216
ACADM
1 1.000 0.080 1 75761366 missense variant A/C snv 0.700 1.000 3 2007 2016
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: 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: 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: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2016 2016
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
dbSNP: rs543428644
rs543428644
KCNQ1
1 1.000 0.080 11 2583498 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004
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: rs768714483
rs768714483
VIPR1
1 1.000 0.080 3 42535093 missense variant G/A snv 1.2E-05 3.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs773507991
rs773507991
MCF2L
1 1.000 0.080 13 113096786 missense variant G/A;C snv 1.1E-05; 1.1E-05 0.010 1.000 1 2010 2010