Disease: Seizures
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1561273261
DIMT1 ; KIF2A
0.790 0.160 5 62361307 missense variant G/A snv 17
rs1564493599
TRPM3 ; LOC101927086
1.000 9 70598463 missense variant C/T snv 3
rs1569097392
SHANK3
1.000 22 50676625 stop gained C/T snv 2
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv 5
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 10
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs397507476
BRAF
0.882 0.200 7 140778011 missense variant T/A;G snv 4
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs587782993
PURA
0.882 0.080 5 140114737 stop gained C/T snv 6
rs587782994
PURA
0.882 0.080 5 140114470 missense variant A/G snv 6
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs587782996
PURA
0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06 5
rs587782997
PURA
0.925 0.080 5 140114964 stop gained C/G snv 5
rs587782999
PURA
0.882 0.080 5 140114446 missense variant G/A;C snv 6
rs587783001
PURA
0.882 0.080 5 140114777 missense variant G/C snv 6
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs587784491
TUBA1A
0.925 0.240 12 49186832 missense variant C/T snv 4
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72