Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060499768
rs1060499768
SPG11
2 1.000 0.080 15 44584505 frameshift variant T/- delins 0.700 0
dbSNP: rs1060501168
rs1060501168
SPG11
1 1.000 0.080 15 44575042 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1060501173
rs1060501173
SPG11
1 1.000 0.080 15 44584522 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs1060501174
rs1060501174
SPG11
1 1.000 0.080 15 44567593 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1060501176
rs1060501176
SPG11
1 1.000 0.080 15 44615411 stop gained A/C;T snv 4.0E-06 0.700 0
dbSNP: rs1323156960
rs1323156960
SPG11
1 1.000 0.080 15 44583836 frameshift variant A/- delins 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1362530862
rs1362530862
SPG11
1 1.000 0.080 15 44595303 stop gained G/A;C snv 0.700 0
dbSNP: rs138103656
rs138103656
SPG11
1 1.000 0.080 15 44596152 stop gained C/G;T snv 1.2E-04 1.1E-04 0.700 0
dbSNP: rs141263564
rs141263564
SPG11
1 1.000 0.080 15 44567580 stop gained T/A;G snv 1.2E-05; 1.6E-05 0.700 0
dbSNP: rs1470463921
rs1470463921
SPG11
1 1.000 0.080 15 44615551 frameshift variant -/A delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs147713329
rs147713329
SPG11
1 1.000 0.080 15 44573661 stop gained G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs1555446712
rs1555446712
SPG11
1 1.000 0.080 15 44567440 frameshift variant A/- delins 0.700 0
dbSNP: rs1555447459
rs1555447459
SPG11
1 1.000 0.080 15 44572795 frameshift variant GT/- delins 0.700 0
dbSNP: rs1555453772
rs1555453772
SPG11
1 1.000 0.080 15 44610985 frameshift variant -/TG ins 0.700 0
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1555455246
rs1555455246
SPG11
1 1.000 0.080 15 44620287 stop gained G/A snv 0.700 0
dbSNP: rs1567129475
rs1567129475
SPG11
1 1.000 0.080 15 44570584 stop gained G/A snv 0.700 0
dbSNP: rs1567138536
rs1567138536
SPG11
1 1.000 0.080 15 44584203 frameshift variant TCGAGAAAATCTG/- delins 0.700 0
dbSNP: rs199588440
rs199588440
SPG11
1 1.000 0.080 15 44628785 stop gained G/A snv 2.8E-05 2.1E-05 0.700 0
dbSNP: rs200793464
rs200793464
SPG11
2 0.925 0.120 15 44574934 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs201689565
rs201689565
SPG11
5 1.000 0.080 15 44584299 missense variant A/G snv 4.8E-05 1.0E-04 0.700 0
dbSNP: rs267607084
rs267607084
SPG11
3 0.882 0.120 15 44663530 stop gained G/A snv 4.8E-06 0.700 0
dbSNP: rs312262709
rs312262709
SPG11
2 0.925 0.120 15 44660607 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs312262710
rs312262710
SPG11
1 1.000 0.080 15 44660606 stop gained C/A snv 4.0E-06 0.700 0
dbSNP: rs312262711
rs312262711
SPG11
1 1.000 0.080 15 44660525 stop gained C/A snv 0.700 0