Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv 7
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17