Disease: Pervasive Development Disorder
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs141441277
SYTL4
0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04 5
rs1275980031
RELN
1.000 0.040 7 103540259 missense variant G/A snv 4.0E-06 2
rs1804197
APC
1.000 0.040 5 112844212 3 prime UTR variant C/A snv 7.2E-02 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
rs10230087
FOXP2
1.000 0.040 7 114614352 intron variant G/A snv 0.73 2
rs2061183
FOXP2
1.000 0.040 7 114617959 intron variant C/G snv 0.73 2
rs1858830
MET
0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 4
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs201551401
GPR37
0.925 0.040 7 124746694 missense variant C/T snv 6.4E-05 1.4E-05 3
rs4541
CYP11B1 ; GML
1.000 0.040 8 142875277 missense variant G/A;T snv 7.8E-02; 2.0E-05 2
rs4534
GML ; CYP11B1
0.925 0.240 8 142879686 missense variant C/T snv 8.4E-02 4.1E-02 3
rs4141463
MACROD2
0.925 0.040 20 14766825 intron variant T/C snv 0.50 3
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs121918799
SCN1A-AS1 ; SCN1A ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 14
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs12037377
TFB2M
1.000 0.040 1 246551218 missense variant G/A snv 3.2E-03 1.6E-03 2
rs4307059 0.882 0.080 5 25967594 intron variant T/A;C snv 5
rs199473391
CACNA1C
1.000 0.040 12 2607117 stop gained G/A;T snv 2
rs893924483
BDNF ; BDNF-AS
0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 23
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs25531
SLC6A4 ; LOC105371720
0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 72
rs750257282
CARS1 ; CARS1-AS1
1.000 0.040 11 3038127 missense variant C/G;T snv 3.2E-05 3
rs587777457
MAOA
0.925 0.200 X 43731695 missense variant G/T snv 3