Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1481733213
ATR
0.851 0.240 3 142568059 splice region variant T/C snv 5
rs1553761113
ATR
0.851 0.240 3 142507967 missense variant C/A snv 5
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv 7
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21