Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
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
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
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
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
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
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 16
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17