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: rs312262792
rs312262792
EIF3J ; SPG11
1 1.000 0.080 15 44563294 frameshift variant -/GTTT delins 0.700 0
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: rs312262791
rs312262791
SPG11
1 1.000 0.080 15 44564540 splice donor variant ACTT/-;ACTTACTT delins 0.700 0
dbSNP: rs762984907
rs762984907
SPG11
1 1.000 0.080 15 44564583 stop gained A/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs312262790
rs312262790
SPG11
1 1.000 0.080 15 44564596 frameshift variant -/A delins 0.700 0
dbSNP: rs312262789
rs312262789
SPG11
1 1.000 0.080 15 44564609 stop gained -/TTAA delins 0.700 0
dbSNP: rs312262788
rs312262788
SPG11
2 0.925 0.120 15 44564668 frameshift variant -/A delins 0.700 0
dbSNP: rs80338869
rs80338869
SPG11
1 1.000 0.080 15 44564675 stop gained G/A;C;T snv 2.1E-02 0.700 0
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: rs312262787
rs312262787
SPG11
1 1.000 0.080 15 44564700 splice region variant -/CCT delins 8.0E-06 0.700 0
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: rs312262786
rs312262786
SPG11
1 1.000 0.080 15 44565954 frameshift variant AG/- delins 4.0E-06 0.700 0
dbSNP: rs312262785
rs312262785
SPG11
1 1.000 0.080 15 44565997 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs312262784
rs312262784
SPG11
1 1.000 0.080 15 44566227 frameshift variant CT/- delins 4.0E-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: rs312262782
rs312262782
SPG11
1 1.000 0.080 15 44567436 frameshift variant CTCA/- delins 5.2E-05 5.6E-05 0.700 0
dbSNP: rs312262781
rs312262781
SPG11
1 1.000 0.080 15 44567438 frameshift variant CAAT/- delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1555446712
rs1555446712
SPG11
1 1.000 0.080 15 44567440 frameshift variant A/- delins 0.700 0
dbSNP: rs863225439
rs863225439
SPG11
2 0.925 0.080 15 44567545 frameshift variant -/C delins 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: rs1060501174
rs1060501174
SPG11
1 1.000 0.080 15 44567593 splice acceptor variant C/A snv 0.700 0
dbSNP: rs312262780
rs312262780
SPG11
1 1.000 0.080 15 44570521 splice region variant T/C snv 0.700 0
dbSNP: rs312262779
rs312262779
SPG11
1 1.000 0.080 15 44570551 frameshift variant C/- delins 0.700 1.000 1 2007 2007
dbSNP: rs1567129475
rs1567129475
SPG11
1 1.000 0.080 15 44570584 stop gained G/A snv 0.700 0
dbSNP: rs1555447432
rs1555447432
SPG11
1 1.000 0.080 15 44572682 splice donor variant C/A snv 0.700 1.000 4 2009 2016