Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del 9
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs863225082
PPP2R5D ; MEA1
0.827 0.160 6 43007265 missense variant G/A snv 7
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv 6
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv 6
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv 5
rs869312689
ZBTB18
0.925 0.160 1 244053934 missense variant T/C 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
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv 4
rs1555013332
SHANK2
0.882 0.160 11 70661635 frameshift variant -/T delins 4
rs1555447569
SCAPER
0.851 0.160 15 76471314 frameshift variant ATTG/- delins 4
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
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv 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