Gene: SPG11 ×
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: rs312262737
rs312262737
SPG11
1 1.000 0.080 15 44626429 stop gained G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 2 2010 2016
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: 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: 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: 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: rs1060501173
rs1060501173
SPG11
1 1.000 0.080 15 44584522 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs1060501176
rs1060501176
SPG11
1 1.000 0.080 15 44615411 stop gained A/C;T snv 4.0E-06 0.700 0
dbSNP: rs1362530862
rs1362530862
SPG11
1 1.000 0.080 15 44595303 stop gained G/A;C snv 0.700 0
dbSNP: rs138103656
rs138103656
SPG11
1 1.000 0.080 15 44596152 stop gained C/G;T snv 1.2E-04 1.1E-04 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: rs147713329
rs147713329
SPG11
1 1.000 0.080 15 44573661 stop gained G/A;C;T snv 1.2E-05 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: rs199588440
rs199588440
SPG11
1 1.000 0.080 15 44628785 stop gained G/A snv 2.8E-05 2.1E-05 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: 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: rs312262711
rs312262711
SPG11
1 1.000 0.080 15 44660525 stop gained C/A snv 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: rs312262728
rs312262728
SPG11
1 1.000 0.080 15 44648976 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs312262732
rs312262732
SPG11
1 1.000 0.080 15 44633561 stop gained G/C snv 0.700 0
dbSNP: rs312262739
rs312262739
SPG11
2 0.925 0.120 15 44626377 stop gained A/C snv 0.700 0