Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1057518770
SNHG14 ; UBE3A
1.000 15 25354536 missense variant C/T snv 6
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins 5
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs751569508
NCOR1
1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 5
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del 4
rs1554121671
SYNGAP1
1.000 6 33440746 frameshift variant -/AGGA delins 4
rs1554817910
ZMIZ1
1.000 10 79216266 missense variant A/G snv 4
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs1569547876
MAGT1
1.000 X 77841252 stop gained G/A snv 4
rs531163149
MTSS2
1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06 4
rs730882201
ARL14EP
1.000 11 30336665 missense variant G/A snv 4
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3
rs1564493599
TRPM3 ; LOC101927086
1.000 9 70598463 missense variant C/T snv 3
rs373260156
MAGT1
1.000 X 77830825 missense variant T/C;G snv 1.2E-05 3
rs904200599
TASP1
1.000 20 13534116 missense variant G/A snv 3
rs1057518932
EFTUD2
1.000 17 44855003 missense variant T/A snv 2
rs1060499738
ACTL6B
1.000 7 100647014 missense variant C/T snv 7.0E-06 2
rs1060499739
CEP97
1.000 3 101757754 missense variant A/G snv 2
rs1060499744
ASH2L
1.000 8 38138822 missense variant A/G snv 2
rs1060499759
ATRX
1.000 X 77688879 missense variant A/T snv 2
rs1060499760
ATRX
1.000 X 77683580 missense variant G/A snv 2