Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins 11
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs1488635637
MKS1
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 6
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv 17
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9