Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs1555630216
PIEZO2
0.790 0.160 18 10714931 splice acceptor variant C/T snv 22
rs1555648288
PIEZO2
0.790 0.160 18 10795003 splice acceptor variant C/T snv 22
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 19
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11