Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 25
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24