Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv 9
rs1557962794
RIT1
0.882 0.160 1 155910693 missense variant T/G snv 4
rs863225119
TNNT2
0.882 0.080 1 201359632 missense variant T/A snv 3
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs137852952
TLL1
1.000 0.080 4 166003471 missense variant T/C snv 2.1E-04 2.4E-04 1
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs1554093433
NKX2-5
0.925 0.080 5 173232833 stop gained G/T snv 4
rs879253754
NKX2-5
1.000 5 173232792 frameshift variant T/- delins 2
rs104893900
NKX2-5
1.000 5 173233011 missense variant G/A snv 1
rs104893907
NKX2-5
1.000 5 173232776 stop gained A/C;T snv 1
rs398123278
MMUT
0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 4
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs769236847
CZ1P-ASNS ; ASNS
0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 1
rs1563595095
CHD7
0.776 0.320 8 60781285 frameshift variant AA/T delins 10
rs367557471
CHD7
1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05 4
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 2
rs56208331
GATA4
0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 2