Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518759
CDKL5
1.000 0.040 X 18604394 frameshift variant -/GC delins 2
rs1206736425
FCGR3B
1 161626229 missense variant T/C snv 2
rs1057518800
GRIN2B
12 13567228 missense variant C/T snv 2
rs1310897090
NBAS
1.000 2 15467394 stop gained G/A snv 2
rs368085185
NBAS
1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05 2
rs1057518777
UBE3A ; SNHG14
15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 2
rs1057517846
WWOX
1.000 16 78108446 stop gained G/A snv 2
rs2076101
APOBEC3F
0.925 0.080 22 39049549 missense variant G/A snv 0.52 0.44 3
rs367619008
DPYD
0.925 0.080 1 97828160 missense variant T/C snv 3.2E-05 3.5E-05 3
rs142375870
MAG
0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04 3
rs144553163
MAG
0.925 0.080 19 35299590 missense variant C/T snv 3.7E-03 3.9E-03 3
rs786203986
NALCN
0.925 13 101176371 missense variant G/A;C snv 4.3E-06 3
rs1057516064
ND3 ; COX3 ; ATP6 ; ND4L ; ND4
0.925 0.120 MT 9237 missense variant G/A snv 3
rs730882240
PIGQ
1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 3
rs774753616
PIGT ; LOC107985405
1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05 3
rs200345816
SH2B2 ; CUX1
0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06 3
rs145536528
SLU7
1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 3
rs886041459
TUBB3
0.925 0.080 16 89935140 missense variant C/T snv 3
rs34832477
TUBGCP2
0.925 0.120 10 133293066 missense variant G/A snv 4.0E-04 1.6E-03 3
rs1057517718
CLCN7
0.882 0.160 16 1447498 missense variant T/C snv 4
rs193929353
KCNJ11
0.882 0.120 11 17387206 missense variant T/C;G snv 4
rs104894421
LIG4
0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 4
rs179363901
MECP2
0.882 0.120 X 154097661 missense variant G/A snv 4
rs104894884
NDUFA1 ; RNF113A
0.882 0.040 X 119871933 missense variant G/C snv 4
rs398123001
PUF60
0.925 8 143818378 missense variant G/A snv 4