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: rs141441277
rs141441277
SYTL4
5 0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04 0.010 1.000 1 2019 2019
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: rs369634007
rs369634007
TMEM87B
10 0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs147405081
rs147405081
TBX5
1 12 114366360 missense variant C/T snv 1.2E-03 4.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs1555226315
rs1555226315
TBX5
4 0.925 0.120 12 114398639 stop gained C/T snv 0.700 0
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: 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: rs387906772
rs387906772
GATA4
3 1.000 0.080 8 11755064 missense variant A/G;T snv 0.010 1.000 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: 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: rs759067821
rs759067821
GATA4
2 1.000 0.080 8 11758294 missense variant C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2000 2000
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs768000961
rs768000961
CCNA2
1 4 121823490 missense variant G/A snv 8.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs759125480
rs759125480
CEP120
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs2579433
rs2579433
CFC1B
1 2 130522115 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs199715380
rs199715380
CFC1
2 2 130597533 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
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: rs132630297
rs132630297
PHF6
6 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2016 2016
dbSNP: rs1390448535
rs1390448535
NOS3
1 7 151007245 missense variant C/G snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
dbSNP: rs869025191
rs869025191
RIT1
9 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0