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: rs104893902
rs104893902
NKX2-5
2 0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06 0.700 1.000 3 1999 2003
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: rs2228638
rs2228638
NRP1
3 1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02 0.820 1.000 3 2013 2018
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: 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: 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: rs774966208
rs774966208
NOTCH1
1 1.000 0.080 9 136523014 missense variant C/G;T snv 0.700 1.000 2 2009 2016
dbSNP: rs10080
rs10080
NRP1
1 1.000 0.080 10 33178180 3 prime UTR variant G/A snv 0.50 0.010 1.000 1 2018 2018
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: rs1185861796
rs1185861796
GATA4
2 1.000 0.080 8 11758339 missense variant C/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
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: rs12519770
rs12519770
ADGRV1
1 1.000 0.080 5 90777460 intron variant A/G snv 0.40 0.010 1.000 1 2017 2017
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: 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: 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: rs1857231
rs1857231 		1 1.000 0.080 10 8919651 intergenic variant G/A snv 0.64 0.700 1.000 1 2013 2013
dbSNP: rs233716
rs233716
RPH3A
1 1.000 0.080 12 112602139 intron variant C/T snv 0.58 0.700 1.000 1 2013 2013
dbSNP: rs233722
rs233722
RPH3A
1 1.000 0.080 12 112593670 intron variant G/A snv 0.53 0.700 1.000 1 2013 2013
dbSNP: rs2388896
rs2388896
LINC02676
1 1.000 0.080 10 8912261 intron variant A/G snv 0.64 0.800 1.000 1 2013 2013
dbSNP: rs288979
rs288979
ROCK1
1 1.000 0.080 18 21031282 intron variant A/G snv 0.21 0.010 1.000 1 2013 2013