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
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins 9
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del 7
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs121434341
CHD7
0.807 0.360 8 60855993 missense variant C/A;T snv 10
rs201439531
CHAT
0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 11