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: rs1085307097
rs1085307097
SPG11
1 1.000 0.080 15 44620234 frameshift variant G/- delins 0.700 1.000 1 2007 2007
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
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: 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: rs1060501174
rs1060501174
SPG11
1 1.000 0.080 15 44567593 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1362530862
rs1362530862
SPG11
1 1.000 0.080 15 44595303 stop gained G/A;C snv 0.700 0
dbSNP: rs1555446712
rs1555446712
SPG11
1 1.000 0.080 15 44567440 frameshift variant A/- delins 0.700 0
dbSNP: rs1555447459
rs1555447459
SPG11
1 1.000 0.080 15 44572795 frameshift variant GT/- delins 0.700 0
dbSNP: rs1555453772
rs1555453772
SPG11
1 1.000 0.080 15 44610985 frameshift variant -/TG ins 0.700 0
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1555455246
rs1555455246
SPG11
1 1.000 0.080 15 44620287 stop gained G/A snv 0.700 0
dbSNP: rs1567129475
rs1567129475
SPG11
1 1.000 0.080 15 44570584 stop gained G/A snv 0.700 0
dbSNP: rs1567138536
rs1567138536
SPG11
1 1.000 0.080 15 44584203 frameshift variant TCGAGAAAATCTG/- delins 0.700 0
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: rs312262716
rs312262716
SPG11
2 0.925 0.080 15 44659213 frameshift variant AATAT/- delins 7.0E-06 0.700 0
dbSNP: rs312262718
rs312262718
SPG11
1 1.000 0.080 15 44659091 frameshift variant AA/C delins 0.700 0