Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1982350
ARNTL
11 13328584 intron variant A/G snv 0.57 1
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv 14
rs10830963
MTNR1B
0.776 0.400 11 92975544 intron variant C/G snv 0.22 10
rs397507562
GNPTAB
0.851 0.240 12 101757311 splice acceptor variant C/G;T snv 6
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 4
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 2
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
rs281864996
GNPTAB
0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06 10
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33