Source: ALL
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
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1064795945
ASPM
1.000 0.120 1 197102332 frameshift variant AAGT/- delins 5
rs1064796738
KIF11
1.000 0.240 10 92606655 stop gained C/T snv 5
rs869312661
PRAF2 ; WDR45
0.925 0.160 X 49075135 splice donor variant C/T snv 3