Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834055
VPS13B
0.925 0.320 8 99853469 frameshift variant -/A delins 9
rs1554122123
CAMK2A
0.925 0.040 5 150251979 splice donor variant -/A delins 5
rs1555740394
PRR12
0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 5
rs1554121671
SYNGAP1
1.000 6 33440746 frameshift variant -/AGGA delins 4
rs777843533
ZMIZ1
0.925 0.160 10 79307487 frameshift variant -/C delins 3
rs869312877
CHD2
0.925 0.160 15 92997299 frameshift variant -/G delins 3
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1555013332
SHANK2
0.882 0.160 11 70661635 frameshift variant -/T delins 4
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1555247805
MED13L
0.925 0.160 12 116008442 frameshift variant A/- del 4
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs1085308051
PTEN
0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06 6
rs587782994
PURA
0.882 0.080 5 140114470 missense variant A/G snv 6
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv 5
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs118192212
KCNQ2
0.925 0.040 20 63439610 inframe deletion AAG/- delins 6
rs875989830
SATB2
0.925 0.200 2 199348742 frameshift variant AC/- delins 4
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18