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: 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: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
23 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
dbSNP: rs11067075
rs11067075
TBX5
1 12 114361761 intron variant C/A snv 1.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs146017816
rs146017816
GATA4
2 1.000 8 11758471 missense variant C/G;T snv 7.2E-05; 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs368489876
rs368489876
GATA4
2 1.000 8 11757012 missense variant G/A snv 4.4E-05 2.1E-05 0.010 1.000 1 2009 2009
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: rs1357911800
rs1357911800
SALL4
1 20 51790094 missense variant T/A snv 0.010 1.000 1 2010 2010
dbSNP: rs151297824
rs151297824
SALL4
1 20 51791897 missense variant G/A snv 2.8E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs387906776
rs387906776
NKX2-5
3 1.000 0.080 5 173232775 missense variant G/A;C;T snv 4.2E-06; 8.4E-06 0.010 1.000 1 2010 2010
dbSNP: rs540578824
rs540578824
GATA4
1 8 11708800 missense variant C/G;T snv 2.1E-05 0.010 < 0.001 1 2010 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
dbSNP: rs866024579
rs866024579
NKX2-5
1 5 173232819 missense variant C/T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs137852813
rs137852813
SOS1
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
dbSNP: rs177415
rs177415
PSEN1
2 1.000 0.040 14 73211255 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1800844
rs1800844
PSEN1
2 1.000 0.040 14 73136992 5 prime UTR variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs387906775
rs387906775
NKX2-5
3 0.925 0.080 5 173234909 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs104894073
rs104894073
GATA4
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.020 1.000 2 2011 2012
dbSNP: rs387906770
rs387906770
GATA4
2 1.000 8 11708439 splice acceptor variant C/A;T snv 0.010 1.000 1 2012 2012
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: rs756237060
rs756237060
HAND1
1 5 154477792 missense variant C/T snv 4.8E-06 0.010 1.000 1 2012 2012
dbSNP: rs11665469
rs11665469
NFATC1
1 18 79454468 intron variant C/T snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1555896779
rs1555896779
GATA5
2 1.000 20 62473507 missense variant G/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1701
rs1701
BAHCC1 ; MIR4740
1 17 81402198 non coding transcript exon variant C/A;G;T snv 0.010 1.000 1 2013 2013
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