Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv 21
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 59
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs121909731
GLUD1
0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 7
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs6296
HTR1B ; LOC105377864
0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 23
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs121908672
LRP5
0.925 0.080 11 68357802 missense variant C/T snv 3
rs776423109
C3
1.000 0.120 19 6718117 missense variant G/A;T snv 4.0E-06; 4.0E-06 2
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs121912703
ACE
17 63496977 missense variant C/T snv 3.7E-05 4.9E-05 2
rs5742912
SCNN1A ; LOC107984500
0.925 0.160 12 6349184 missense variant A/G snv 1.9E-02 1.7E-02 3
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs942758928
MC4R
1.000 0.080 18 60371854 missense variant C/T snv 8.0E-06 1.4E-05 2
rs74315431
VAPB
0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 15
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs945270 0.925 0.040 14 55733755 intergenic variant C/G;T snv 3
rs5569
SLC6A2
0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 19
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
rs150450891
FTO
16 53826341 missense variant G/A snv 4.6E-04 5.7E-04 1
rs202151337
SCN8A
0.925 0.160 12 51806788 missense variant A/G snv 4
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
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 82