Disease: Moderate intellectual disability
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs72555360
GLB1
0.807 0.280 3 33058221 missense variant G/A snv 4.4E-05 6.3E-05 8
rs371582179
GLB1
0.827 0.280 3 33014057 missense variant T/C snv 3.6E-05 6.3E-05 7
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 7
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins 5
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv 5
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv 5
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv 4
rs1553654413
ITPR1
0.925 0.240 3 4627877 splice region variant CGTA/- delins 4
rs767961672
FOXG1
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06 4
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv 4
rs878853163
SATB2
0.925 0.200 2 199323850 stop gained T/A;C snv 4