Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 2
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv 5
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins 6
rs10830963
MTNR1B
0.776 0.400 11 92975544 intron variant C/G snv 0.22 10
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs11824092
ARNTL
0.925 0.080 11 13324747 intron variant T/C snv 0.62 1
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv 14
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10