Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797045954
SF3B4
0.851 0.160 1 149923568 frameshift variant TCGAGGGGGAACTGGTGGCC/- delins 5
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv 7
rs1553370918
MYCN
0.851 0.360 2 15945602 frameshift variant TG/- delins 6
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
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
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
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19