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: 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: 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: 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
dbSNP: rs946110595
rs946110595
KCNH2
1 1.000 0.080 7 150957434 missense variant T/C snv 0.010 1.000 1 2004 2004
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: rs786204566
rs786204566
ACADM
1 1.000 0.080 1 75732879 frameshift variant -/T delins 0.700 1.000 7 2001 2012
dbSNP: rs1057517356
rs1057517356
ACADM
1 1.000 0.080 1 75734833 frameshift variant AGTA/- delins 0.700 1.000 6 2004 2017
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: rs370523609
rs370523609
ACADM ; DLSTP1
1 1.000 0.080 1 75745788 non coding transcript exon variant G/A snv 2.5E-04 5.0E-04 0.700 1.000 5 2010 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: rs786204424
rs786204424
ACADM
1 1.000 0.080 1 75733625 splice donor variant G/- delins 0.700 1.000 5 2005 2012
dbSNP: rs875989857
rs875989857
ACADM
1 1.000 0.080 1 75734827 inframe deletion AAG/- delins 0.700 1.000 5 2010 2017
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: 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