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: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs1057518874
rs1057518874
SPG11
4 15 44598738 missense variant C/A snv 0.700 0
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs201689565
rs201689565
SPG11
5 1.000 0.080 15 44584299 missense variant A/G snv 4.8E-05 1.0E-04 0.700 0