Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs371011047
DYNC2H1
0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 9
rs764926983
DYNC2H1
0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 9
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv 9
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins 11
rs1131691804
FBN1
0.807 0.200 15 48463123 missense variant G/A snv 8
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 13
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59