Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs587779766
AHDC1
0.851 0.200 1 27549742 frameshift variant CA/- delins 7
rs587779767
AHDC1
0.851 0.200 1 27549218 frameshift variant G/- delins 7
rs587779768
AHDC1
0.851 0.200 1 27549569 frameshift variant G/- delins 7
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv 8
rs1057518918
ARID1B
0.882 0.160 6 157184329 frameshift variant C/- delins 6
rs797045277
ARID1B
0.882 0.280 6 157198907 splice region variant G/A snv 5
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv 3
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv 5
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs147030232
BBS2
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 8
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6