Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3836790
SLC6A3
0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 5
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs28363170
SLC6A3
0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 7
rs1799732
DRD2 ; LOC105369501
0.790 0.160 11 113475529 intron variant -/G delins 11
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv 7
rs397507548
PTPN11
0.851 0.160 12 112489093 missense variant A/C snv 6
rs566794487
CRY1
12 106997986 missense variant A/C snv 3.6E-05 1
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs10938397 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 19
rs206936
RPS10-NUDT3 ; NUDT3
0.882 0.160 6 34335092 intron variant A/G snv 0.34 8
rs202151337
SCN8A
0.925 0.160 12 51806788 missense variant A/G snv 4
rs2161961
GNAL
18 11774501 intron variant A/G snv 0.31 3
rs5742912
SCNN1A ; LOC107984500
0.925 0.160 12 6349184 missense variant A/G snv 1.9E-02 1.7E-02 3
rs1170695
SLC6A1 ; SLC6A1-AS1
1.000 0.040 3 11013652 5 prime UTR variant A/G snv 0.35 2
rs539815495
PRKN
6 161973365 missense variant A/G snv 1.1E-04 1.4E-05 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs63750215
PSEN2
0.701 0.240 1 226885603 missense variant A/T snv 19
rs324981
NPSR1-AS1 ; NPSR1
0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 18
rs397509345
PTPN11
0.851 0.160 12 112489093 missense variant AG/CC mnv 5
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 6