Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv 6
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv 9
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv 7
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins 8
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs142157346
FXN
0.882 0.160 9 69053240 missense variant G/T snv 4
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs63751243
GRN
0.882 0.160 17 44349190 missense variant C/A;T snv 4.0E-06 4
rs1555475794
JMJD8 ; STUB1
0.925 0.120 16 682729 3 prime UTR variant T/C snv 7
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs374263073
LAMC2
0.925 0.120 1 183222116 missense variant G/A;T snv 1.2E-05 3
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs770703007
MAPK8IP3
0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 8
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
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
rs1158702707
PDGFB
1.000 0.080 22 39231710 missense variant G/A snv 7.0E-06 1