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: 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 0
dbSNP: rs267607084
rs267607084
SPG11
3 0.882 0.120 15 44663530 stop gained G/A snv 4.8E-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: rs371334506
rs371334506
SPG11
5 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs765061840
rs765061840
SPG11
6 0.882 0.120 15 44633619 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs863225439
rs863225439
SPG11
2 0.925 0.080 15 44567545 frameshift variant -/C delins 0.700 0
dbSNP: rs863225440
rs863225440
SPG11
2 0.925 0.080 15 44659154 stop gained G/A snv 0.700 0