Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553549717
SCN1A ; SCN1A-AS1
1.000 2 166051871 frameshift variant C/- delins 2
rs1553479216
SCN9A ; SCN1A-AS1
2 166228902 stop gained C/T snv 1
rs1556039406
NHS
1.000 X 17727350 frameshift variant C/- delins 2
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1555565243
RAI1
1.000 17 17794617 frameshift variant CT/- delins 3
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 19
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 10
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs730882175
KCNH1
1.000 0.120 1 210804143 missense variant C/T snv 3
rs774152851
SNORD9 ; CHD8
1.000 14 21394188 frameshift variant G/-;GG delins 2
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 6
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins 2
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1555179320
LOC105369689 ; ABCC9
0.925 0.040 12 21817283 missense variant C/T snv 4
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 15
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1553283037
HNRNPU
1.000 1 244860382 missense variant T/C snv 2
rs778127154
ALDH5A1
1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 4
rs757823678
DNMT3A
1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06 2
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs797045865
PAFAH1B1
0.925 0.080 17 2674088 frameshift variant GA/- delins 3
rs1554931219
BDNF ; BDNF-AS
11 27658063 stop gained C/A snv 2
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 7