Disease: Moderate intellectual disability
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7
rs145465528
LAMA2
0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 7
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv 6
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 6
rs1553546045
PTH2R
0.925 0.200 2 208442425 missense variant C/T snv 5
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv 5
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv 5
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv 5
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv 5
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06 5
rs534517447
GRIK4 ; LOC101929208
0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 4
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.160 2 166013812 stop gained G/A snv 4
rs796053439
TPP1
0.925 0.240 11 6616714 missense variant T/C;G snv 4.0E-06; 4.0E-06 4
rs869312666
MTOR
0.925 0.160 1 11129789 missense variant A/C snv 4
rs869312677
SYNGAP1
0.925 0.160 6 33446780 frameshift variant TTGGCAG/- del 4
rs869312699
GRIK4
0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins 4
rs875989830
SATB2
0.925 0.200 2 199348742 frameshift variant AC/- delins 4
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv 4
rs794727870
SLC2A1
0.925 0.160 1 42929244 missense variant G/A;T snv 3
rs869312670
LOC102724058 ; SCN1A ; SCN1A-AS1
0.925 0.160 2 166013745 frameshift variant A/- del 3
rs869312667
NBEA
1.000 0.160 13 35157262 missense variant C/T snv 2