Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv 5
rs797045055
ND5 ; ND6 ; CYTB
1.000 0.080 MT 14597 missense variant A/G snv 2
rs562740927
PANK2
1.000 0.080 20 3910728 missense variant A/G snv 2.3E-04 4.9E-05 1
rs1553878395
SEPSECS
0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 5
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 17
rs374434303
PNPLA6
0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 4
rs63751243
GRN
0.882 0.160 17 44349190 missense variant C/A;T snv 4.0E-06 4
rs781934508
SURF1
1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 4
rs1057518936
PNPLA6
0.925 0.120 19 7541025 missense variant C/G snv 3
rs770703007
MAPK8IP3
0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 8
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs2516839
USF1
0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 14
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv 7
rs72547551
SPG7
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 5
rs869312880
REEP1
0.882 0.120 2 86232624 splice donor variant C/T snv 5