Disease: Pervasive Development Disorder
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs4307059 0.882 0.080 5 25967594 intron variant T/A;C snv 5
rs6551665
ADGRL3
0.882 0.040 4 61873823 intron variant G/A snv 0.59 4
rs1804197
APC
1.000 0.040 5 112844212 3 prime UTR variant C/A snv 7.2E-02 2
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs893924483
BDNF ; BDNF-AS
0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 23
rs199473391
CACNA1C
1.000 0.040 12 2607117 stop gained G/A;T snv 2
rs1163276899
CACNA1D
1.000 0.040 3 53673125 missense variant G/A snv 2
rs750257282
CARS1 ; CARS1-AS1
1.000 0.040 11 3038127 missense variant C/G;T snv 3.2E-05 3
rs237902
CAV3 ; OXTR
0.925 0.040 3 8767498 synonymous variant G/A snv 0.29 0.31 3
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs2279357
CYP11A1
0.851 0.160 15 74338282 intron variant T/C snv 0.69 5
rs4541
CYP11B1 ; GML
1.000 0.040 8 142875277 missense variant G/A;T snv 7.8E-02; 2.0E-05 2
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs10230087
FOXP2
1.000 0.040 7 114614352 intron variant G/A snv 0.73 2
rs12531289
FOXP2
1.000 0.040 7 114600061 intron variant T/A snv 0.73 2
rs1350135
FOXP2
1.000 0.040 7 114602621 intron variant C/A;G;T snv 2
rs2061183
FOXP2
1.000 0.040 7 114617959 intron variant C/G snv 0.73 2
rs4534
GML ; CYP11B1
0.925 0.240 8 142879686 missense variant C/T snv 8.4E-02 4.1E-02 3
rs779545541
GPHN
0.882 0.120 14 66965293 missense variant C/T snv 4.0E-06 5
rs201551401
GPR37
0.925 0.040 7 124746694 missense variant C/T snv 6.4E-05 1.4E-05 3
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
rs4141463
MACROD2
0.925 0.040 20 14766825 intron variant T/C snv 0.50 3