Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs61738009
CPA6 ; LOC102724708
0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 9
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs184953805
ATRIP ; TREX1 ; ATRIP-TREX1
0.882 0.200 3 48467284 stop gained G/A snv 8
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs1057519465
HEXA
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 7
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv 7
rs724159953
DYRK1A
1.000 21 37505352 stop gained C/T snv 7
rs773446161
HEXA
0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 7
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 6
rs104894718
SCN1B
0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 6
rs1057519468
HEXA
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 6
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv 6
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs587782993
PURA
0.882 0.080 5 140114737 stop gained C/T snv 6
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 6
rs797044520
DYRK1A
0.925 21 37505442 stop gained C/T snv 6
rs113993970
HTRA1
0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05 5
rs118203682
TSC1
0.882 0.160 9 132902640 stop gained G/A snv 5
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv 5
rs553522118
TPP1
0.882 0.160 11 6617338 stop gained G/A;T snv 5
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
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv 5