Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 2
rs886037832
TWNK ; MRPL43
0.851 0.280 10 100988541 frameshift variant T/- delins 9
rs879253798
SPG7
1.000 0.080 16 89524099 frameshift variant TC/- delins 3
rs879253797
SPG7
0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05 5
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs863224229
SURF2 ; SURF1
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 4
rs80358257
NPC1
0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 8
rs80358243
MLC1
0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 4
rs80356713
ABCB7
0.925 0.120 X 75070499 missense variant C/A;G snv 1
rs80338700
PMM2
0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 7
rs79267946
CA8
1.000 0.160 8 60232322 stop gained T/A;C snv 2
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs781934508
SURF1
1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 4
rs775141057
LOC100287944 ; POLR3B
0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05 6
rs774214806
GRM1
1.000 6 146159536 stop gained C/A;T snv 1.6E-05 2
rs773372123
LOC105371046 ; IFT140
0.851 0.160 16 1587209 missense variant C/T snv 2.0E-05 4
rs771578775
COQ8A
1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 1
rs771379232
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 15
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 2
rs754081544
MRPL43 ; TWNK
0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 5
rs753635972
ST20-MTHFS ; MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 15
rs752989523
SPG7
0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06 5
rs750959420
SETX
1.000 0.080 9 132311820 frameshift variant CTCT/-;CT delins 4.0E-06; 2.4E-05 3.5E-05 2
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 5