Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
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
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 6
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins 6
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins 6
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv 6
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins 6
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv 5
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
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
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38