Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 38
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
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
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs10938397 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 11
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv 10
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 8
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv 7
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv 7
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 6
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins 6
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 5
rs28934897
MVK
0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 5
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 4
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 3
rs121908153
NLRP3
0.882 0.080 1 247424356 missense variant G/A;C snv 3
rs778899140
PDE10A
0.925 6 165450268 missense variant T/C snv 4.0E-06 3