Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 29
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 13
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12