Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6824295
STX18-AS1
0.851 0.120 4 4612553 intron variant C/T snv 0.20 6
rs779545541
GPHN
0.882 0.120 14 66965293 missense variant C/T snv 4.0E-06 5
rs1555226315
TBX5
0.925 0.120 12 114398639 stop gained C/T snv 4
rs199865688
MYBPC3
0.925 0.080 11 47337496 missense variant C/T snv 1.5E-03 1.2E-03 4
rs2228638
NRP1
1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02 3
rs199715380
CFC1
2 130597533 missense variant C/T snv 2
rs759067821
GATA4
1.000 0.080 8 11758294 missense variant C/T snv 2.8E-05 1.4E-05 2
rs147405081
TBX5
12 114366360 missense variant C/T snv 1.2E-03 4.1E-03 1
rs1555628863
GATA6
0.925 0.080 18 22172215 frameshift variant G/- delins 3
rs762292772
SHANK3
0.882 0.160 22 50721505 frameshift variant G/-;GG delins 4
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
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
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs1555706928
SETBP1
0.851 0.240 18 44951954 missense variant G/A snv 8
rs141441277
SYTL4
0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04 5
rs1340513
KDM4C
0.882 0.120 9 6977633 intron variant G/A snv 0.75 4
rs387906816
GATA6
0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04 4
rs398123278
MMUT
0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 4
rs1393297693
SRF
1.000 0.040 6 43178806 missense variant G/A snv 4.0E-06 3
rs104893900
NKX2-5
1.000 5 173233011 missense variant G/A snv 2
rs1345146178
NKX2-5
5 173233003 stop gained G/A snv 1