Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs886041185
VPS13B
0.925 0.320 8 99835295 frameshift variant -/A delins 4
rs1057516904
MCOLN1
0.925 0.160 19 7528881 frameshift variant -/A delins 3
rs1462161137
METTL23
1.000 17 76733042 frameshift variant -/A delins 7.0E-06 3
rs1553212626
POGZ
1.000 1 151406151 frameshift variant -/A delins 3
rs1555392032
SPRED1
1.000 15 38339805 frameshift variant -/A delins 3
rs1554122458
SYNGAP1
6 33444450 frameshift variant -/A delins 2
rs1554226131
ARID1B
1.000 6 157148899 frameshift variant -/A delins 2
rs1554777375
STXBP1
9 127665304 frameshift variant -/A delins 2
rs1555773554
CIC
19 42294295 frameshift variant -/A delins 1
rs1555815437
SPTBN4
1.000 19 40512839 frameshift variant -/AGCGGGCGGCGCGCATGACC delins 2
rs1555801872
RYR1
19 38572152 inframe insertion -/ATGGTGTACTACTTC delins 2
rs1553259529
MPZ
1.000 1 161306152 frameshift variant -/C delins 3
rs1555533842
NF1
1.000 17 31330303 frameshift variant -/C delins 3
rs1557099144
PHF8
1.000 X 53985131 frameshift variant -/C delins 3
rs1555985372
PCDH19
1.000 X 100407591 frameshift variant -/C delins 2
rs1554120939
SYNGAP1
1.000 6 33435269 frameshift variant -/CACA delins 2
rs1555046428
KMT2A
1.000 11 118503078 frameshift variant -/CAGAT delins 2
rs1554852244
FAS
10 89014158 frameshift variant -/CATG delins 1
rs542489955
LOC105375215 ; FKBP14
0.851 0.120 7 30019110 frameshift variant -/G delins 5.5E-04 5.4E-04 6
rs1131690805
H1-4 ; H2BC5
0.925 6 26156815 frameshift variant -/G delins 3
rs1553732126
ADCY5
3 123347875 frameshift variant -/G delins 2
rs1555321405
FOXG1
1.000 14 28768359 frameshift variant -/G delins 2