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: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
dbSNP: rs866024579
rs866024579
NKX2-5
1 5 173232819 missense variant C/T snv 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: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs796052728
rs796052728
MEF2C
2 1.000 0.080 5 88823746 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs7830
rs7830
NOS3 ; ATG9B
11 0.763 0.320 7 151012483 3 prime UTR variant G/T snv 0.38 0.32 0.010 1.000 1 2014 2014
dbSNP: rs77693245
rs77693245
TBX18
1 6 84765153 upstream gene variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs771150933
rs771150933
MESP1
2 1.000 0.080 15 89750880 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs759125480
rs759125480
CEP120
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs756237060
rs756237060
HAND1
1 5 154477792 missense variant C/T snv 4.8E-06 0.010 1.000 1 2012 2012
dbSNP: rs755273705
rs755273705
EVC
1 4 5729349 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs755246809
rs755246809
AHI1
7 0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 0.700 0
dbSNP: rs754505
rs754505
NFATC1 ; LOC101927897
1 18 79466368 intron variant G/A snv 5.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs754369510
rs754369510
NUP214
3 0.925 0.040 9 131134988 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs751484586
rs751484586
PITX2
3 0.925 0.080 4 110618487 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs746800707
rs746800707
AAR2
8 0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 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: rs703752
rs703752
NKX2-5
1 5 173232508 3 prime UTR variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs6785358
rs6785358 		4 0.882 0.200 3 30602723 upstream gene variant G/A snv 0.84 0.010 1.000 1 2015 2015
dbSNP: rs6738266
rs6738266
DARS1 ; DARS-AS1
1 2 135985602 5 prime UTR variant C/T snv 2.8E-02 2.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs6563
rs6563
NOTCH1
1 9 136494732 3 prime UTR variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs61729366
rs61729366
FRAS1
6 0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 0.700 0
dbSNP: rs587777710
rs587777710
GATA6
8 0.807 0.160 18 22171856 stop gained G/T snv 0.700 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 0.020 0.500 2 2009 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