Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5742912
SCNN1A ; LOC107984500
0.925 0.160 12 6349184 missense variant A/G snv 1.9E-02 1.7E-02 3
rs202151337
SCN8A
0.925 0.160 12 51806788 missense variant A/G snv 4
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins 6
rs206936
RPS10-NUDT3 ; NUDT3
0.882 0.160 6 34335092 intron variant A/G snv 0.34 8
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
rs63750215
PSEN2
0.701 0.240 1 226885603 missense variant A/T snv 19
rs539815495
PRKN
6 161973365 missense variant A/G snv 1.1E-04 1.4E-05 1
rs3745406
PRKCG
0.851 0.080 19 53891711 missense variant T/A;C snv 4.0E-06; 0.41 6
rs402691
PRKCG
19 53888383 intron variant T/C snv 0.39 2
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 6
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs397515323
PDK3
0.851 0.080 X 24503479 missense variant G/A snv 7
rs778899140
PDE10A
0.925 6 165450268 missense variant T/C snv 4.0E-06 5
rs875989839
PDE10A
1.000 6 165450242 missense variant C/G snv 3
rs1057519866
NT5C2
0.851 0.120 10 103093198 missense variant C/T snv 5
rs6191
NR3C1
0.925 0.040 5 143278591 3 prime UTR variant C/A snv 0.48 4
rs324981
NPSR1-AS1 ; NPSR1
0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 18
rs121908153
NLRP3
0.882 0.080 1 247424356 missense variant G/A;C snv 4
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
rs387907272
MYD88
0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs28934897
MVK
0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 10
rs104895321
MVK
0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 4
rs104895358
MVK
12 109595148 missense variant G/A snv 1.2E-05 2