Disease: Pervasive Development Disorder
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3027407
MAOA
0.925 0.040 X 43745594 3 prime UTR variant A/G snv 3
rs3747333
NLGN4X
0.925 0.040 X 5893491 missense variant G/A;C;T snv 7.6E-03 3
rs3747334
NLGN4X
0.925 0.040 X 5893489 synonymous variant G/A;C;T snv 1.2E-05; 6.7E-03 3
rs3784730
ST8SIA2
0.851 0.120 15 92443898 intron variant A/G snv 0.44 6
rs397514679
SYN1
0.790 0.200 X 47574321 stop gained G/A snv 9
rs4141463
MACROD2
0.925 0.040 20 14766825 intron variant T/C snv 0.50 3
rs4307059 0.882 0.080 5 25967594 intron variant T/A;C snv 5
rs4534
GML ; CYP11B1
0.925 0.240 8 142879686 missense variant C/T snv 8.4E-02 4.1E-02 3
rs4541
CYP11B1 ; GML
1.000 0.040 8 142875277 missense variant G/A;T snv 7.8E-02; 2.0E-05 2
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs587777457
MAOA
0.925 0.200 X 43731695 missense variant G/T snv 3
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs6311
HTR2A
0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 41
rs6314
HTR2A
0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 23
rs6323
MAOA
0.807 0.040 X 43731789 synonymous variant G/T snv 0.65 7
rs6551665
ADGRL3
0.882 0.040 4 61873823 intron variant G/A snv 0.59 4
rs750257282
CARS1 ; CARS1-AS1
1.000 0.040 11 3038127 missense variant C/G;T snv 3.2E-05 3
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs768913131
NRXN1
0.925 0.040 2 50552821 missense variant G/A snv 3
rs779545541
GPHN
0.882 0.120 14 66965293 missense variant C/T snv 4.0E-06 5
rs893924483
BDNF ; BDNF-AS
0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 23
rs9616915
SHANK3
1.000 0.040 22 50679152 missense variant T/C snv 0.43 0.46 2