Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs539612316
ALMS1
0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05 4
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs192669225
AMPD2
0.925 0.040 1 109628692 missense variant G/A snv 3
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs2076101
APOBEC3F
0.925 0.080 22 39049549 missense variant G/A snv 0.52 0.44 3
rs730882200
ARFGEF2
0.882 0.040 20 48953604 frameshift variant -/C delins 3
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs1057518918
ARID1B
0.882 0.160 6 157184329 frameshift variant C/- delins 6
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv 5
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs730882201
ARL14EP
1.000 11 30336665 missense variant G/A snv 4
rs1060499744
ASH2L
1.000 8 38138822 missense variant A/G snv 2
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv 7
rs746536347
ATAD3B
0.882 0.040 1 1490639 missense variant C/T snv 2.6E-05 3.5E-05 3
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv 13
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 8
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1060499759
ATRX
1.000 X 77688879 missense variant A/T snv 2
rs1060499760
ATRX
1.000 X 77683580 missense variant G/A snv 2