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: rs864622513
rs864622513
GDF1 ; CERS1
1 1.000 0.080 19 18868791 missense variant A/G snv 1.1E-03 1.1E-04 0.700 1.000 1 2007 2007
dbSNP: rs864321699
rs864321699
GATA4
2 1.000 0.080 8 11708337 missense variant G/A;C snv 0.700 0
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
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: rs7982677
rs7982677
GPC5
1 1.000 0.080 13 92336070 intron variant C/A snv 0.29 0.800 1.000 1 2013 2013
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: 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: rs769531968
rs769531968
JAG1
2 0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 2 2001 2010
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
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: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs6499100
rs6499100 		1 1.000 0.080 16 52797550 intergenic variant T/C snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs587783446
rs587783446
CHD7
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs563655306
rs563655306
CITED2
2 0.925 0.080 6 139373371 missense variant T/C snv 3.2E-03 2.0E-03 0.010 1.000 1 2012 2012
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: rs56085230
rs56085230
ROCK1
1 1.000 0.080 18 21042578 synonymous variant G/A snv 6.7E-03 6.3E-03 0.010 1.000 1 2013 2013
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: 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: rs4771856
rs4771856
GPC5 ; GPC5-AS2
1 1.000 0.080 13 92342256 intron variant C/A snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs387906818
rs387906818
GATA6
3 0.882 0.120 18 22181516 missense variant C/T snv 0.710 1.000 1 2014 2014
dbSNP: rs387906816
rs387906816
GATA6
4 0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04 0.720 1.000 3 2010 2014
dbSNP: rs387906814
rs387906814
GATA6
1 1.000 0.080 18 22171736 missense variant C/G snv 6.6E-05 6.7E-04 0.700 1.000 2 2010 2010
dbSNP: rs387906769
rs387906769
GATA4
7 0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 0.710 1.000 1 2010 2010
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: rs368858287
rs368858287
GATA6
1 1.000 0.080 18 22200684 missense variant G/C;T snv 1.4E-05 0.010 1.000 1 2014 2014