Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv 16
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv 13
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv 7
rs121912703
ACE
17 63496977 missense variant C/T snv 3.7E-05 4.9E-05 2
rs5569
SLC6A2
0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 19
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs150450891
FTO
16 53826341 missense variant G/A snv 4.6E-04 5.7E-04 1
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs945270 0.925 0.040 14 55733755 intergenic variant C/G;T snv 3
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 82
rs75634836
HTR2A
0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06 11
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs28934897
MVK
0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 10
rs397507548
PTPN11
0.851 0.160 12 112489093 missense variant A/C snv 6
rs397509345
PTPN11
0.851 0.160 12 112489093 missense variant AG/CC mnv 5
rs104895321
MVK
0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 4
rs202151337
SCN8A
0.925 0.160 12 51806788 missense variant A/G snv 4
rs2284411
GRIN2B
1.000 0.040 12 13713238 intron variant C/T snv 0.34 4
rs5742912
SCNN1A ; LOC107984500
0.925 0.160 12 6349184 missense variant A/G snv 1.9E-02 1.7E-02 3