Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598
BPTF
19 0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411
BPTF
10 0.790 0.360 17 67894102 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs1555649483
rs1555649483
BPTF
12 0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 0.700 1.000 1 2017 2017
dbSNP: rs1555652383
rs1555652383
BPTF
13 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1555693714
rs1555693714
BPTF
5 0.882 0.120 17 67975933 stop gained A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs782736894
rs782736894
BPTF
16 0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs869312824
rs869312824
GNB1
14 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs869312825
rs869312825
GNB1
11 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
6 1.000 15 25354536 missense variant C/T snv 0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
7 1.000 X 71132465 missense variant G/A snv 0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1555462347
rs1555462347
USP7
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555507479
rs1555507479
GNAO1
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs1564365418
rs1564365418
GRIN1
5 0.882 0.120 9 137163846 missense variant G/T snv 0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
11 0.882 14 102010824 missense variant G/A snv 0.700 0
dbSNP: rs1568359734
rs1568359734
ASXL3
8 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0