Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs1057517843
TUBA1A
1.000 0.240 12 49185725 missense variant C/A;T snv 2
rs1057518772
LOC105372721 ; KCNQ2
20 63433860 missense variant A/C;G snv 1
rs1057518777
UBE3A ; SNHG14
15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 2
rs1057518781
MCOLN1
0.925 0.120 19 7527961 splice donor variant G/A;C snv 7
rs1057518782
LOC105372261 ; MCOLN1
0.925 0.120 19 7526579 stop gained C/G;T snv 7
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs1057518800
GRIN2B
12 13567228 missense variant C/T snv 2
rs1057518850
FMR1
1.000 0.040 X 147928320 splice acceptor variant A/G snv 2
rs1057518872
GJA1
0.882 0.160 6 121447287 missense variant T/C snv 5
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv 7
rs1057518918
ARID1B
0.882 0.160 6 157184329 frameshift variant C/- delins 6
rs1057518926
FOXP1
0.925 0.120 3 70977675 missense variant G/C snv 5
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv 6
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057519392
POGZ
1.000 0.160 1 151412348 missense variant A/G snv 2
rs1057519393
KDM5C
1.000 0.080 X 53197768 splice donor variant -/A delins 2
rs1057519394
SLC9A6
1.000 0.280 X 136002195 frameshift variant T/- delins 2
rs1057519395
SHANK3
1.000 0.080 22 50721861 frameshift variant TG/- delins 2
rs1057519398
SMC1A
1.000 0.080 X 53409218 frameshift variant -/G ins 2
rs1057519399
ANKRD11
1.000 0.280 16 89281038 frameshift variant A/- del 2
rs1057519400
SYNGAP1
1.000 0.160 6 33440958 frameshift variant TT/- delins 2
rs1057519402
DYRK1A
1.000 21 37478266 frameshift variant CTTGA/- delins 2
rs1057519403
KMT2A
1.000 0.240 11 118499835 missense variant G/A snv 2