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: 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: 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: 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: rs875989865
rs875989865
ACADM ; SLC44A5
1 1.000 0.080 1 75724782 start lost GCCAACATGGCA/ACCCCGAAGG delins 0.700 0
dbSNP: rs1057516778
rs1057516778
ACADM ; SLC44A5
1 1.000 0.080 1 75724788 start lost A/G snv 0.700 0
dbSNP: rs1553121887
rs1553121887
ACADM ; SLC44A5
1 1.000 0.080 1 75724790 start lost G/C snv 0.700 0
dbSNP: rs768596219
rs768596219
ACADM ; SLC44A5
1 1.000 0.080 1 75724819 splice donor variant T/C;G snv 6.0E-06 0.700 0
dbSNP: rs1325949559
rs1325949559
ACADM
1 1.000 0.080 1 75728417 frameshift variant C/- del 0.700 0
dbSNP: rs875989875
rs875989875
ACADM
1 1.000 0.080 1 75728472 stop gained -/GATTTAG 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: 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: 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: rs1319192670
rs1319192670
ACADM
1 1.000 0.080 1 75732688 frameshift variant T/- delins 7.0E-06 0.700 0
dbSNP: rs1057517179
rs1057517179
ACADM
1 1.000 0.080 1 75732694 frameshift variant AG/- delins 0.700 0
dbSNP: rs121434280
rs121434280
ACADM
1 1.000 0.080 1 75732724 missense variant T/C snv 5.0E-04 7.1E-04 0.800 1.000 33 1990 2016
dbSNP: rs1057516801
rs1057516801
ACADM
1 1.000 0.080 1 75732742 splice donor variant G/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1057516480
rs1057516480
ACADM
1 1.000 0.080 1 75732860 frameshift variant T/- del 0.700 0
dbSNP: rs398123074
rs398123074
ACADM
1 1.000 0.080 1 75732869 missense variant T/C snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs786204566
rs786204566
ACADM
1 1.000 0.080 1 75732879 frameshift variant -/T delins 0.700 1.000 7 2001 2012
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: 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