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: rs870142
rs870142
STX18-AS1
7 0.851 0.120 4 4646320 intron variant C/G;T snv 0.020 1.000 2 2015 2016
dbSNP: rs104893900
rs104893900
NKX2-5
2 1.000 5 173233011 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs104893907
rs104893907
NKX2-5
3 1.000 5 173232776 stop gained A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894073
rs104894073
GATA4
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs111862418
rs111862418
TBX20
1 7 35204548 missense variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1345146178
rs1345146178
NKX2-5
1 5 173233003 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1346496644
rs1346496644
CCN1
1 1 85581440 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1390448535
rs1390448535
NOS3
1 7 151007245 missense variant C/G snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs1393297693
rs1393297693
SRF
3 1.000 0.040 6 43178806 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143978652
rs143978652
MYH6
6 0.882 0.080 14 23393437 missense variant C/A;T snv 9.3E-04; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1555628863
rs1555628863
GATA6
3 0.925 0.080 18 22172215 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2019 2019
dbSNP: rs199715380
rs199715380
CFC1
2 2 130597533 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs2579433
rs2579433
CFC1B
1 2 130522115 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2013 2013
dbSNP: rs387906771
rs387906771
GATA4
2 1.000 0.080 8 11750166 missense variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs387906772
rs387906772
GATA4
3 1.000 0.080 8 11755064 missense variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs483352999
rs483352999
TBX20
1 7 35202590 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs56208331
rs56208331
GATA4
4 0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 0.010 < 0.001 1 2007 2007
dbSNP: rs746365549
rs746365549
TTN
2 2 178782573 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs746503158
rs746503158
MTG1
3 1.000 0.040 10 133420125 missense variant A/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs758277832
rs758277832
NKX2-5
2 1.000 0.080 5 173233109 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016