Disease: Seizures
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1057518770
SNHG14 ; UBE3A
1.000 15 25354536 missense variant C/T snv 6
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1057518932
EFTUD2
1.000 17 44855003 missense variant T/A snv 2
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins 6
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1085308040
PTEN
0.851 0.200 10 87961096 missense variant G/A;T snv 6
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5
rs1114167297
KIF5B
0.851 0.160 10 32019912 missense variant T/C snv 5
rs1114167300
GRM7
0.925 0.040 3 7578878 missense variant C/T snv 6
rs1114167301
GRM7
0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 6
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1135402725
PDHX
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 6
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins 4
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10