Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 25
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 17
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs121918097
TTR
0.790 0.280 18 31595137 missense variant G/A snv 10
rs74315403
PRNP
0.790 0.200 20 4699752 missense variant G/A snv 10
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv 9
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins 8
rs770703007
MAPK8IP3
0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 8
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv 7
rs1555475794
JMJD8 ; STUB1
0.925 0.120 16 682729 3 prime UTR variant T/C snv 7
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv 6
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6