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: rs28939668
rs28939668
JAG1
6 0.807 0.200 20 10652533 missense variant C/T snv 0.830 1.000 4 2001 2010
dbSNP: rs104893905
rs104893905
NKX2-5
2 0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06 0.800 1.000 3 1999 2003
dbSNP: rs1057515420
rs1057515420
EPHB4
1 1.000 0.080 7 100819874 missense variant G/A snv 0.700 1.000 2 2009 2016
dbSNP: rs121908601
rs121908601
ZFPM2
4 0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03 0.700 1.000 2 2003 2011
dbSNP: rs774966208
rs774966208
NOTCH1
1 1.000 0.080 9 136523014 missense variant C/G;T snv 0.700 1.000 2 2009 2016
dbSNP: rs11066188
rs11066188
HECTD4
7 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 0.700 1.000 1 2013 2013
dbSNP: rs1114167357
rs1114167357
TPM1
1 1.000 0.080 15 63042945 splice donor variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1131695
rs1131695
JAG1
1 1.000 0.080 20 10652589 stop gained G/A;C;T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs115099192
rs115099192
GATA4
5 0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 0.810 1.000 1 2010 2010
dbSNP: rs115875978
rs115875978
ALDH1A2
1 1.000 0.080 15 58010691 missense variant C/A;T snv 5.9E-04; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121434424
rs121434424
GDF1 ; CERS1
1 1.000 0.080 19 18869231 missense variant C/A;T snv 2.1E-04 0.800 1.000 1 2007 2007
dbSNP: rs121908603
rs121908603
ZFPM2 ; ZFPM2-AS1
3 0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs139365823
rs139365823
MIR138-2
2 0.925 0.080 16 56858519 non coding transcript exon variant G/A;C;T snv 4.1E-06; 2.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs1448468136
rs1448468136
ZFPM2 ; ZFPM2-AS1
1 1.000 0.080 8 105802610 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs145895196
rs145895196
JAG1
2 0.925 0.120 20 10641566 missense variant C/A;T snv 1.6E-05; 1.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs149655951
rs149655951
ALDH1A2
1 1.000 0.080 15 57992742 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs372187772
rs372187772
PRODH ; DGCR6
2 1.000 0.080 22 18913477 stop gained G/A;C snv 9.8E-06; 4.9E-06 0.010 1.000 1 2015 2015
dbSNP: rs387906818
rs387906818
GATA6
3 0.882 0.120 18 22181516 missense variant C/T snv 0.710 1.000 1 2014 2014
dbSNP: rs56208331
rs56208331
GATA4
4 0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 0.710 1.000 1 2009 2009
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs771792843
rs771792843
GATA4
1 1.000 0.080 8 11749060 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs804280
rs804280
GATA4
6 0.882 0.120 8 11755189 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018