Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs150321966
ECHS1
0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04 3
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 9
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 5
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1564855725
TPP1
0.882 0.160 11 6617621 splice region variant C/T snv 5
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs1568427678
GCDH
0.882 0.160 19 12896243 missense variant G/C snv 3
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs281864996
GNPTAB
0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06 10
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs370266293
HEXA
0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 5
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs377510027
DARS1
0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 6
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12