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: rs312262690
rs312262690
ANTXR2
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs1559759089
rs1559759089
ATP6V1A
14 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
11 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1057519429
rs1057519429
CACNA1A
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs1287121256
rs1287121256
CAMK2A
9 0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872
CAMK2A
7 0.882 0.040 5 150250270 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554121875
rs1554121875
CAMK2A
7 0.882 0.040 5 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1554122123
rs1554122123
CAMK2A
5 0.925 0.040 5 150251979 splice donor variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs1554122129
rs1554122129
CAMK2A
6 0.882 0.040 5 150252032 missense variant T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554122526
rs1554122526
CAMK2A
9 0.882 0.040 5 150256811 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982
CAMK2A
7 0.925 0.040 5 150273157 splice acceptor variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867
CAMK2A
12 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
7 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
12 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1048764460
rs1048764460
COG4
1 1.000 0.040 16 70482809 stop gained C/A snv 5.6E-05 0.700 0
dbSNP: rs267606740
rs267606740
COG4
2 0.925 0.040 16 70481397 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs1057518961
rs1057518961
DYNC1H1
5 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs935855792
rs935855792
ETHE1
3 0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06 0.700 0
dbSNP: rs1057521721
rs1057521721
GRIA3
5 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
12 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0