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: rs312262720
rs312262720
SPG11
5 0.882 0.120 15 44657230 frameshift variant AT/- del 4.9E-05 0.700 1.000 14 2007 2016
dbSNP: rs312262752
rs312262752
SPG11
1 1.000 0.080 15 44613500 frameshift variant T/-;TT delins 0.700 1.000 6 2007 2016
dbSNP: rs312262721
rs312262721
SPG11
1 1.000 0.080 15 44657094 splice donor variant C/T snv 0.700 1.000 5 2008 2016
dbSNP: rs1555447432
rs1555447432
SPG11
1 1.000 0.080 15 44572682 splice donor variant C/A snv 0.700 1.000 4 2009 2016
dbSNP: rs312262722
rs312262722
SPG11
1 1.000 0.080 15 44651744 frameshift variant T/- delins 1.2E-05 1.4E-05 0.700 1.000 4 2007 2014
dbSNP: rs312262749
rs312262749
SPG11
1 1.000 0.080 15 44620189 splice donor variant C/A snv 2.0E-05 2.8E-05 0.700 1.000 4 2009 2016
dbSNP: rs764647588
rs764647588
SPG11
1 1.000 0.080 15 44564698 missense variant C/G;T snv 2.0E-05 0.700 1.000 4 2007 2016
dbSNP: rs312262737
rs312262737
SPG11
1 1.000 0.080 15 44626429 stop gained G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 2 2010 2016
dbSNP: rs371334506
rs371334506
SPG11
5 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 1.000 2 2016 2017
dbSNP: rs1085307097
rs1085307097
SPG11
1 1.000 0.080 15 44620234 frameshift variant G/- delins 0.700 1.000 1 2007 2007
dbSNP: rs118203963
rs118203963
SPG11
2 0.925 0.080 15 44573652 stop gained G/A;C snv 4.0E-06; 6.8E-05 0.700 1.000 1 2007 2007
dbSNP: rs140385286
rs140385286
SPG11
3 0.882 0.120 15 44651862 stop gained C/T snv 4.0E-05 4.9E-05 0.700 1.000 1 2013 2013
dbSNP: rs141848292
rs141848292
SPG11
1 1.000 0.080 15 44584057 stop gained G/A snv 3.2E-05 2.1E-05 0.700 1.000 1 2008 2008
dbSNP: rs200079802
rs200079802
EIF3J ; SPG11
1 1.000 0.080 15 44563302 splice acceptor variant C/G snv 1.0E-04 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
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: rs312262764
rs312262764
SPG11
1 1.000 0.080 15 44584223 frameshift variant CT/- delins 4.9E-05 0.700 1.000 1 2008 2008
dbSNP: rs312262779
rs312262779
SPG11
1 1.000 0.080 15 44570551 frameshift variant C/- delins 0.700 1.000 1 2007 2007
dbSNP: rs747220413
rs747220413
SPG11
2 1.000 0.080 15 44660589 frameshift variant CTGTTACGAG/- delins 3.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs765477482
rs765477482
SPG11
1 1.000 0.080 15 44657182 stop gained G/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
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: 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