Disease: Moderate intellectual disability
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs72555360
GLB1
0.807 0.280 3 33058221 missense variant G/A snv 4.4E-05 6.3E-05 8
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
rs371582179
GLB1
0.827 0.280 3 33014057 missense variant T/C snv 3.6E-05 6.3E-05 7
rs886041093
EHMT1
0.827 0.280 9 137815998 missense variant G/A snv 7
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs773685207
MED13
0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 6
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv 5
rs869312689
ZBTB18
0.925 0.160 1 244053934 missense variant T/C 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
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv 4
rs1554904772
BRSK2
0.882 0.280 11 1443490 missense variant G/A snv 4
rs1555013332
SHANK2
0.882 0.160 11 70661635 frameshift variant -/T delins 4