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: rs1555447459
rs1555447459
SPG11
1 1.000 0.080 15 44572795 frameshift variant GT/- delins 0.700 0
dbSNP: rs312262778
rs312262778
SPG11
1 1.000 0.080 15 44572821 splice acceptor variant C/G snv 0.700 0
dbSNP: rs771057519
rs771057519
SPG11
1 1.000 0.080 15 44573601 stop gained C/A;T snv 4.0E-06 7.0E-06 0.700 0
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: rs147713329
rs147713329
SPG11
1 1.000 0.080 15 44573661 stop gained G/A;C;T snv 1.2E-05 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: rs312262776
rs312262776
SPG11
1 1.000 0.080 15 44574916 frameshift variant CAGA/- delins 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: rs312262774
rs312262774
SPG11
1 1.000 0.080 15 44574931 stop gained G/A snv 4.0E-06 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: rs312262773
rs312262773
SPG11
1 1.000 0.080 15 44574938 stop gained G/C snv 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
dbSNP: rs312262772
rs312262772
SPG11
1 1.000 0.080 15 44575038 stop gained G/C snv 0.700 0
dbSNP: rs1060501168
rs1060501168
SPG11
1 1.000 0.080 15 44575042 splice acceptor variant C/A snv 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: rs312262771
rs312262771
SPG11
1 1.000 0.080 15 44583882 frameshift variant G/- del 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: rs312262770
rs312262770
SPG11
1 1.000 0.080 15 44583911 frameshift variant A/- del 7.0E-06 0.700 0
dbSNP: rs312262769
rs312262769
SPG11
1 1.000 0.080 15 44583977 frameshift variant A/- delins 0.700 0
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: rs312262768
rs312262768
SPG11
1 1.000 0.080 15 44584147 frameshift variant TG/- del 0.700 0
dbSNP: rs1567138536
rs1567138536
SPG11
1 1.000 0.080 15 44584203 frameshift variant TCGAGAAAATCTG/- delins 0.700 0
dbSNP: rs312262767
rs312262767
SPG11
1 1.000 0.080 15 44584210 stop gained G/A snv 8.0E-06 1.4E-05 0.700 0
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: rs312262766
rs312262766
SPG11
1 1.000 0.080 15 44584269 frameshift variant CA/- delins 4.0E-06 0.700 0