Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs118203707
TSC1
0.925 0.200 9 132900828 frameshift variant TTTG/- delins 4
rs869312677
SYNGAP1
0.925 0.160 6 33446780 frameshift variant TTGGCAG/- del 4
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs886039529
LOC102724058 ; SCN1A ; SCN1A-AS1
1.000 0.080 2 166036051 frameshift variant TT/- delins 2
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins 8
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs587782991
PURA
0.882 0.080 5 140114991 inframe deletion TCT/- delins 6
rs587783000
PURA
0.925 0.080 5 140114444 inframe deletion TCG/- del 5
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins 7
rs1553920383
PPP3CA
0.925 4 101032350 frameshift variant TC/- delins 3
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv 9
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs1564617866
POLR3A
0.925 0.200 10 78000983 missense variant T/G snv 7
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv 7
rs864309676
STX7
0.851 0.120 6 132472372 missense variant T/G snv 7
rs63750050
PSEN1
0.925 0.080 14 73198106 missense variant T/G snv 1
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 10
rs796053439
TPP1
0.925 0.240 11 6616714 missense variant T/C;G snv 4.0E-06; 4.0E-06 4
rs79977247
TTR
0.776 0.200 18 31592975 missense variant T/C;G snv 2
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42