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: rs1470463921
rs1470463921
SPG11
1 1.000 0.080 15 44615551 frameshift variant -/A delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs312262738
rs312262738
SPG11
1 1.000 0.080 15 44626411 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs312262744
rs312262744
SPG11
1 1.000 0.080 15 44621906 frameshift variant -/A ins 0.700 0
dbSNP: rs312262755
rs312262755
SPG11
1 1.000 0.080 15 44600488 frameshift variant -/A ins 1.6E-05 3.5E-05 0.700 0
dbSNP: rs312262775
rs312262775
SPG11
1 1.000 0.080 15 44574921 frameshift variant -/A delins 1.6E-05; 8.0E-06 0.700 0
dbSNP: rs312262777
rs312262777
SPG11
1 1.000 0.080 15 44574915 frameshift variant -/A delins 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs312262788
rs312262788
SPG11
2 0.925 0.120 15 44564668 frameshift variant -/A delins 0.700 0
dbSNP: rs312262790
rs312262790
SPG11
1 1.000 0.080 15 44564596 frameshift variant -/A delins 0.700 0
dbSNP: rs760618394
rs760618394
SPG11
1 1.000 0.080 15 44589346 frameshift variant -/A delins 4.0E-06; 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs312262750
rs312262750
SPG11
1 1.000 0.080 15 44615558 frameshift variant -/C delins 7.0E-06 0.700 0
dbSNP: rs863225439
rs863225439
SPG11
2 0.925 0.080 15 44567545 frameshift variant -/C delins 0.700 0
dbSNP: rs764186203
rs764186203
SPG11
1 1.000 0.080 15 44589411 frameshift variant -/CA ins 8.0E-06 2.1E-05 0.700 0
dbSNP: rs779321661
rs779321661
SPG11
1 1.000 0.080 15 44583898 frameshift variant -/CAGATCCTCC delins 8.0E-06 0.700 0
dbSNP: rs312262787
rs312262787
SPG11
1 1.000 0.080 15 44564700 splice region variant -/CCT delins 8.0E-06 0.700 0
dbSNP: rs312262783
rs312262783
SPG11
1 1.000 0.080 15 44566269 frameshift variant -/G delins 4.0E-06 0.700 0
dbSNP: rs750663981
rs750663981
SPG11
2 0.925 0.080 15 44598811 frameshift variant -/G delins 2.0E-05 6.3E-05 0.700 0
dbSNP: rs767798272
rs767798272
SPG11
1 1.000 0.080 15 44610917 frameshift variant -/GGGA delins 1.2E-05 7.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs312262792
rs312262792
EIF3J ; SPG11
1 1.000 0.080 15 44563294 frameshift variant -/GTTT delins 0.700 0
dbSNP: rs312262725
rs312262725
SPG11
1 1.000 0.080 15 44651598 frameshift variant -/T delins 5.2E-05 3.5E-05 0.700 1.000 1 2008 2008
dbSNP: rs312262735
rs312262735
SPG11
1 1.000 0.080 15 44629286 frameshift variant -/T ins 0.700 0
dbSNP: rs312262757
rs312262757
SPG11
1 1.000 0.080 15 44598781 frameshift variant -/T delins 0.700 0
dbSNP: rs753257469
rs753257469
SPG11
1 1.000 0.080 15 44608585 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs1555453772
rs1555453772
SPG11
1 1.000 0.080 15 44610985 frameshift variant -/TG ins 0.700 0
dbSNP: rs312262789
rs312262789
SPG11
1 1.000 0.080 15 44564609 stop gained -/TTAA delins 0.700 0
dbSNP: rs749652788
rs749652788
SPG11
1 1.000 0.080 15 44574973 stop gained -/TTCCAGGTTA delins 4.0E-06 7.0E-06 0.700 0