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
rs1020764190
AFG3L2
0.925 0.120 18 12351330 missense variant G/A snv 2
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv 7
rs397514477
C19orf12
0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 5
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs2157719
CDKN2B-AS1
0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 17
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv 6
rs730882246
ISCA2 ; NPC2
0.807 0.200 14 74494329 missense variant G/A snv 8
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv 7
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs672601366
KIF1A
0.851 0.120 2 240786339 missense variant C/G snv 6
rs672601371
KIF1A
0.925 0.080 2 240783791 missense variant A/T snv 4
rs1177373525
LOC102724808 ; OPA1
0.925 0.080 3 193666331 missense variant A/G snv 1.2E-05 2
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8
rs1057519286
MECR
0.882 0.080 1 29196234 stop gained A/C;G snv 3
rs1057519287
MECR
0.882 0.080 1 29216612 frameshift variant TGAT/- delins 3
rs145192716
MECR
0.882 0.080 1 29200574 missense variant G/A snv 6.4E-05 6.3E-05 3
rs759218713
MECR
0.882 0.080 1 29196235 missense variant T/C snv 8.0E-06 7.0E-06 3
rs762913101
MECR
0.882 0.080 1 29202004 missense variant C/T snv 7.2E-05 2.1E-05 3
rs119103265
MFN2
0.827 0.120 1 12002033 missense variant C/T snv 5
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44