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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.010 1.000 1 2017 2017
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: rs1057516039
rs1057516039
KMT2D
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516047
rs1057516047
TTC7A ; STPG4
4 0.882 0.120 2 47073816 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518868
rs1057518868
FOXF1 ; FENDRR
3 0.925 0.080 16 86510849 missense variant A/T snv 0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs11067075
rs11067075
TBX5
1 12 114361761 intron variant C/A snv 1.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs1114167294
rs1114167294
FOXP4
4 0.925 6 41587455 frameshift variant T/- del 0.700 0
dbSNP: rs113331868
rs113331868
CAMK2A
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs11665469
rs11665469
NFATC1
1 18 79454468 intron variant C/T snv 0.30 0.010 1.000 1 2013 2013
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2017 2019
dbSNP: rs12190287
rs12190287
TCF21
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
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: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1294950721
rs1294950721
JAG1
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs1334099693
rs1334099693
SOX4
11 0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1357911800
rs1357911800
SALL4
1 20 51790094 missense variant T/A snv 0.010 1.000 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: rs1383180
rs1383180
CRMP1 ; EVC
1 4 5783715 missense variant G/A;T snv 0.35; 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs142239530
rs142239530
STIM1
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0