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
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 25
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19