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: rs1057519050
rs1057519050
TBX5
1 1.000 0.080 12 114398679 missense variant A/C snv 0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
11 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1555528356
rs1555528356
ANKRD11
13 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
dbSNP: rs1568486679
rs1568486679
SMARCA4
5 0.882 0.080 19 11021755 missense variant G/A snv 0.700 0
dbSNP: rs397515415
rs397515415
HDAC8
10 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
dbSNP: rs748106387
rs748106387
SMARCAL1
9 0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs1210124629
rs1210124629
CRELD1
3 0.882 0.120 3 9944503 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1323833193
rs1323833193
EGF
4 0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs137852686
rs137852686
NKX2-5
4 0.851 0.080 5 173232997 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs367652299
rs367652299
NFATC1
3 0.882 0.120 18 79411375 missense variant C/T snv 3.3E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs376621016
rs376621016
TBX5
4 0.851 0.080 12 114399553 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3774207
rs3774207
CRELD1
4 0.851 0.160 3 9943972 synonymous variant C/T snv 0.27 0.38 0.010 1.000 1 2012 2012
dbSNP: rs4808863
rs4808863
GDF1 ; CERS1
5 0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2015 2015
dbSNP: rs62096875
rs62096875
NFATC1
3 0.882 0.120 18 79410903 missense variant G/A;T snv 7.4E-04; 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs73118372
rs73118372
CRELD1
4 0.851 0.160 3 9943989 missense variant T/C;G snv 2.6E-02; 6.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs749275495
rs749275495
TBX1
3 0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs755981922
rs755981922
CRELD1
4 0.851 0.160 3 9943440 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs9878047
rs9878047
CRELD1
4 0.851 0.160 3 9943773 intron variant T/C snv 0.38 0.010 1.000 1 2012 2012