Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387907208
ABCC9
0.851 0.200 12 21842327 missense variant G/A;C snv 5
rs765265404
ACTB
1.000 0.240 7 5529173 missense variant C/A;T snv 2.0E-05 2
rs1060499738
ACTL6B
1.000 7 100647014 missense variant C/T snv 7.0E-06 2
rs730882213
ADAT3 ; SCAMP4
0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 3
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
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
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
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
rs1057519399
ANKRD11
1.000 0.280 16 89281038 frameshift variant A/- del 2
rs1555521799
ANKRD11
1.000 0.280 16 89270872 missense variant G/T snv 2
rs763407068
ANKRD11
1.000 0.280 16 89280330 stop gained G/A;C snv 5.6E-05 2
rs886041521
ANKRD11
16 89282157 frameshift variant -/T delins 5.2E-05 1
rs1557107528
ARHGAP4 ; NAA10
1.000 0.080 X 153932325 missense variant A/C snv 2
rs1057518918
ARID1B
0.882 0.160 6 157184329 frameshift variant C/- delins 6
rs1060499744
ASH2L
1.000 8 38138822 missense variant A/G snv 2
rs199422173
ASPM
0.827 0.120 1 197101468 frameshift variant CT/- delins 2.3E-04 1.7E-04 7
rs1064795945
ASPM
1.000 0.120 1 197102332 frameshift variant AAGT/- delins 5
rs199422151
ASPM
0.882 0.120 1 197125190 stop gained G/A;T snv 4.0E-06; 1.6E-05 4
rs199422152
ASPM
0.882 0.120 1 197125161 stop gained C/T snv 4
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 8
rs1135401772
ATP6V1B2
1.000 8 20216454 missense variant G/C snv 2
rs122445108
ATRX
0.807 0.320 X 77717155 stop gained G/A snv 5