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: rs368489876
rs368489876
GATA4
2 1.000 8 11757012 missense variant G/A snv 4.4E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs387906770
rs387906770
GATA4
2 1.000 8 11708439 splice acceptor variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4841587
rs4841587
GATA4
3 1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs4841588
rs4841588
GATA4
3 1.000 0.080 8 11756716 non coding transcript exon variant G/T snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs540578824
rs540578824
GATA4
1 8 11708800 missense variant C/G;T snv 2.1E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs55633527
rs55633527
GATA4
2 1.000 0.080 8 11758378 missense variant C/T snv 3.6E-03 3.2E-03 0.010 < 0.001 1 2010 2010
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: rs1555896779
rs1555896779
GATA5
2 1.000 20 62473507 missense variant G/C snv 0.010 1.000 1 2013 2013
dbSNP: rs587777710
rs587777710
GATA6
8 0.807 0.160 18 22171856 stop gained G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs181317402
rs181317402
GDF1 ; CERS1
3 0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs756237060
rs756237060
HAND1
1 5 154477792 missense variant C/T snv 4.8E-06 0.010 1.000 1 2012 2012
dbSNP: rs1564062144
rs1564062144
HNRNPK
7 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
dbSNP: rs7207109
rs7207109
HOXB1
2 1.000 0.080 17 48530455 synonymous variant C/T snv 0.18 0.18 0.010 1.000 1 2018 2018
dbSNP: rs3762977
rs3762977
ISL1 ; LOC642366
1 5 51383180 non coding transcript exon variant A/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1294950721
rs1294950721
JAG1
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs1555038029
rs1555038029
KMT2A
12 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
dbSNP: rs1057516039
rs1057516039
KMT2D
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs796052728
rs796052728
MEF2C
2 1.000 0.080 5 88823746 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs771150933
rs771150933
MESP1
2 1.000 0.080 15 89750880 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2017 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2017 2019
dbSNP: rs11665469
rs11665469
NFATC1
1 18 79454468 intron variant C/T snv 0.30 0.010 1.000 1 2013 2013