Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7720606 1.000 0.080 5 127216040 intron variant A/G snv 0.40 2
rs113288603 19 40856388 intron variant C/T snv 8.7E-02 1
rs281875329
ACTG1 ; FSCN2
0.925 0.120 17 81511224 missense variant G/A;T snv 4.0E-06 3
rs281875330
ACTG1 ; FSCN2
1.000 0.120 17 81511626 missense variant T/C snv 2
rs1561441451
ADGRV1
1.000 0.200 5 90642715 stop gained G/T snv 2
rs1561543496
ADGRV1
1.000 0.200 5 90694641 stop gained G/T snv 2
rs1561790371
ADGRV1
1.000 0.200 5 90815669 stop gained G/T snv 2
rs1561805689
ADGRV1
1.000 0.200 5 90823424 splice acceptor variant G/T snv 2
rs1561843914
ADGRV1
1.000 0.200 5 90848817 stop gained G/T snv 2
rs377650415
ADGRV1
1.000 0.200 5 90815654 stop gained G/A;T snv 1.4E-05 2
rs765574676
ADGRV1
5 90627593 missense variant C/T snv 2.8E-05 7.0E-06 1
rs777476179
ALMS1
0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 5
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs1565331646
ANAPC15 ; LRTOMT
1.000 0.120 11 72107947 frameshift variant -/CTCG delins 2
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 6
rs878855327
ANKRD11
0.925 0.280 16 89279750 frameshift variant G/-;GG delins 5
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs121908354
CDH23
0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 4
rs1060499791
CDH23
1.000 0.120 10 71617295 missense variant C/T snv 2
rs1264310782
CDH23
1.000 0.120 10 71799579 missense variant G/A snv 4.0E-06 7.0E-06 2
rs1344509500
CDH23
1.000 0.120 10 71810017 stop gained G/T snv 4.1E-06 1.4E-05 2
rs1390562340
CDH23
1.000 0.120 10 71682520 missense variant A/G snv 2
rs1554871816
CDH23
1.000 0.120 10 71777711 missense variant A/C snv 2
rs1554874879
CDH23
1.000 0.120 10 71793594 frameshift variant C/- delins 2