Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7
rs1554121875
CAMK2A
0.882 0.040 5 150250281 missense variant T/C snv 7
rs1554123982
CAMK2A
0.925 0.040 5 150273157 splice acceptor variant C/- delins 7
rs1554122129
CAMK2A
0.882 0.040 5 150252032 missense variant T/A snv 6
rs1554122123
CAMK2A
0.925 0.040 5 150251979 splice donor variant -/A delins 5
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv 7
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs267606740
COG4
0.925 0.040 16 70481397 missense variant G/A snv 2.4E-05 1.4E-05 2
rs1048764460
COG4
1.000 0.040 16 70482809 stop gained C/A snv 5.6E-05 1
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs935855792
ETHE1
0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06 3
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv 5