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: 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: 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: rs312262711
rs312262711
SPG11
1 1.000 0.080 15 44660525 stop gained C/A snv 0.700 0
dbSNP: rs312262712
rs312262712
SPG11
1 1.000 0.080 15 44660515 frameshift variant A/- delins 0.700 0
dbSNP: rs312262713
rs312262713
SPG11
1 1.000 0.080 15 44660476 frameshift variant C/- del 0.700 0
dbSNP: rs312262714
rs312262714
SPG11
1 1.000 0.080 15 44660446 inframe deletion AATGAGCTTTTGCAATGCCTC/- delins 0.700 0
dbSNP: rs312262715
rs312262715
SPG11
1 1.000 0.080 15 44660431 splice donor variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs312262716
rs312262716
SPG11
2 0.925 0.080 15 44659213 frameshift variant AATAT/- delins 7.0E-06 0.700 0
dbSNP: rs863225440
rs863225440
SPG11
2 0.925 0.080 15 44659154 stop gained G/A snv 0.700 0
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs312262718
rs312262718
SPG11
1 1.000 0.080 15 44659091 frameshift variant AA/C delins 0.700 0
dbSNP: rs312262719
rs312262719
SPG11
1 1.000 0.080 15 44657259 frameshift variant AT/- del 2.0E-05 0.700 0
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: 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: rs312262721
rs312262721
SPG11
1 1.000 0.080 15 44657094 splice donor variant C/T snv 0.700 1.000 5 2008 2016
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: 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: rs312262723
rs312262723
SPG11
1 1.000 0.080 15 44651712 stop gained G/A;C snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs312262724
rs312262724
SPG11
1 1.000 0.080 15 44651665 stop gained T/A snv 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: rs312262726
rs312262726
SPG11
1 1.000 0.080 15 44649013 splice acceptor variant T/C snv 7.0E-06 0.700 0
dbSNP: rs312262727
rs312262727
SPG11
1 1.000 0.080 15 44648996 frameshift variant AG/- delins 1.6E-05 1.4E-05 0.700 0
dbSNP: rs312262728
rs312262728
SPG11
1 1.000 0.080 15 44648976 stop gained G/A snv 8.0E-06 0.700 0