Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 6
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 26
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs5742912
SCNN1A ; LOC107984500
0.925 0.160 12 6349184 missense variant A/G snv 1.9E-02 1.7E-02 3
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs566794487
CRY1
12 106997986 missense variant A/C snv 3.6E-05 1
rs5569
SLC6A2
0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 19
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs539815495
PRKN
6 161973365 missense variant A/G snv 1.1E-04 1.4E-05 1
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs402691
PRKCG
19 53888383 intron variant T/C snv 0.39 2
rs397515323
PDK3
0.851 0.080 X 24503479 missense variant G/A snv 7
rs397509345
PTPN11
0.851 0.160 12 112489093 missense variant AG/CC mnv 5
rs397507548
PTPN11
0.851 0.160 12 112489093 missense variant A/C snv 6
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs387907272
MYD88
0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs3836790
SLC6A3
0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 5
rs3746544
SNAP25 ; SNAP25-AS1
0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 10
rs3745406
PRKCG
0.851 0.080 19 53891711 missense variant T/A;C snv 4.0E-06; 0.41 6
rs372857241
FOXC1
1.000 0.080 6 1610586 stop gained C/G;T snv 1.8E-05 2
rs363043
SNAP25-AS1 ; SNAP25
0.925 0.080 20 10245498 intron variant C/T snv 0.30 3
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78