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: rs863225465
rs863225465
ANKLE2
2 1.000 12 132734559 missense variant G/C snv 0.800 1.000 1 2014 2014
dbSNP: rs1185537869
rs1185537869
ANKLE2
1 1.000 12 132754714 missense variant C/A snv 0.700 0
dbSNP: rs201785518
rs201785518
ANKLE2
2 1.000 12 132729818 stop gained G/A snv 5.6E-05 1.4E-05 0.700 0