Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs2277923
NKX2-5
0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 13
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs1563595095
CHD7
0.776 0.320 8 60781285 frameshift variant AA/T delins 10
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
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
rs769236847
CZ1P-ASNS ; ASNS
0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 8
rs1565307564
TMEM258 ; MYRF
0.807 0.120 11 61783599 missense variant A/G snv 7
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv 9
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 12
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs1555706928
SETBP1
0.851 0.240 18 44951954 missense variant G/A snv 8
rs870142
STX18-AS1
0.851 0.120 4 4646320 intron variant C/G;T snv 7
rs16835979
STX18-AS1
0.851 0.120 4 4633549 intron variant C/A snv 0.20 6