Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs80358243
MLC1
0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 4
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs771379232
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 15
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv 6
rs752989523
SPG7
0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06 5
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs1568440440
CACNA1A
0.925 0.120 19 13228767 stop gained GT/- delins 3
rs201754030
TSFM
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 2
rs774214806
GRM1
1.000 6 146159536 stop gained C/A;T snv 1.6E-05 2
rs79267946
CA8
1.000 0.160 8 60232322 stop gained T/A;C snv 2
rs771578775
COQ8A
1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 1
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 36
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 21
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 20
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 17
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 17
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs753635972
ST20-MTHFS ; MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 15
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10