Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs1555652383
BPTF
0.807 0.160 17 67912720 frameshift variant TG/- delins 13
rs1555649483
BPTF
0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 12
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10
rs1568359734
ASXL3
0.827 0.240 18 33738903 frameshift variant A/- delins 8
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1057518770
SNHG14 ; UBE3A
1.000 15 25354536 missense variant C/T snv 6
rs1555693714
BPTF
0.882 0.120 17 67975933 stop gained A/T snv 5
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv 5