Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del 7
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 8
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs769234940
CHAT
0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 11
rs201439531
CHAT
0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 11
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs121434341
CHD7
0.807 0.360 8 60855993 missense variant C/A;T snv 9
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs397515415
HDAC8
0.807 0.240 X 72495216 stop gained G/A;T snv 10
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73