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: rs387906889
rs387906889
AFG3L2 ; TUBB6 ; LOC107985154
1 1.000 18 12340334 missense variant T/A;C snv 8.0E-06 0.800 1.000 1 2011 2011
dbSNP: rs727502823
rs727502823
AFG3L2 ; TUBB6 ; LOC107985154
1 1.000 18 12340306 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs764254189
rs764254189
AFG3L2 ; TUBB6 ; LOC107985154
1 1.000 18 12340230 missense variant T/C;G snv 5.6E-05 0.700 0