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: 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: 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: 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: 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
dbSNP: rs312262729
rs312262729
SPG11
1 1.000 0.080 15 44648918 frameshift variant AG/- delins 0.700 0
dbSNP: rs312262731
rs312262731
SPG11
1 1.000 0.080 15 44633572 frameshift variant A/- delins 0.700 0
dbSNP: rs312262732
rs312262732
SPG11
1 1.000 0.080 15 44633561 stop gained G/C snv 0.700 0
dbSNP: rs312262733
rs312262733
SPG11
1 1.000 0.080 15 44633529 frameshift variant AGTGATCAAACTGAT/TGGGAGTA delins 0.700 0
dbSNP: rs312262734
rs312262734
SPG11
1 1.000 0.080 15 44633499 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs312262735
rs312262735
SPG11
1 1.000 0.080 15 44629286 frameshift variant -/T ins 0.700 0
dbSNP: rs312262736
rs312262736
SPG11
1 1.000 0.080 15 44629278 frameshift variant CA/- delins 0.700 0
dbSNP: rs312262738
rs312262738
SPG11
1 1.000 0.080 15 44626411 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs312262739
rs312262739
SPG11
2 0.925 0.120 15 44626377 stop gained A/C snv 0.700 0
dbSNP: rs312262740
rs312262740
SPG11
1 1.000 0.080 15 44622727 splice donor variant C/T snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs312262741
rs312262741
SPG11
1 1.000 0.080 15 44622305 frameshift variant CT/- delins 0.700 0
dbSNP: rs312262742
rs312262742
SPG11
1 1.000 0.080 15 44622220 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs312262743
rs312262743
SPG11
1 1.000 0.080 15 44622219 splice donor variant C/G;T snv 4.0E-06 0.700 0