Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
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
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14