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: rs1057518874
rs1057518874
SPG11
4 15 44598738 missense variant C/A snv 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
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