Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs17070145
WWC1
0.790 0.120 5 168418786 intron variant C/T snv 0.43 10
rs6910730
TREM1
0.925 0.080 6 41278895 intron variant A/G snv 0.21 3
rs2075650
TOMM40
0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 45
rs157582
TOMM40
0.851 0.160 19 44892962 intron variant C/T snv 0.24 0.29 8
rs10524523
TOMM40
0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 7
rs115881343
TOMM40
1.000 0.040 19 44899959 intron variant C/G;T snv 2.9E-02 2
rs73643144
TEK
9 27126454 intron variant T/C snv 3.5E-02 1
rs398122403
SYNJ1
0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 11
rs62256378
SUCLG2
0.925 0.080 3 67406609 intron variant G/A;C snv 3
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs765061840
SPG11
0.882 0.120 15 44633619 stop gained G/A snv 1.2E-05 7.0E-06 6
rs371334506
SPG11
0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 5
rs121912456
SOD1 ; LOC102724449
0.851 0.120 21 31659806 missense variant G/C snv 6
rs80265967
SOD1
0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 16
rs121912433
SOD1
0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 7
rs542171324
SNCA
0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06 6
rs363050
SNAP25-AS1 ; SNAP25
0.790 0.240 20 10253609 intron variant G/A snv 0.57 8
rs10073892
SLCO6A1
5 102391066 non coding transcript exon variant T/C snv 0.24 0.21 1
rs796052957
SCN1A-AS1 ; SCN1A
0.925 0.040 2 166054735 missense variant A/G snv 3
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs544706237
REG1A
0.851 0.120 2 79121649 missense variant A/G;T snv 8.0E-06; 5.2E-05 5
rs17746510
RAPGEF4
0.882 0.080 2 173019562 intron variant T/C;G snv 5