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: rs150291837
rs150291837
1 1.000 0.160 11 74049431 missense variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 1 2015 2015
dbSNP: rs587777653
rs587777653
2 0.925 0.160 11 74168485 stop gained G/A snv 1.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225151
rs863225151
1 1.000 0.160 11 74074252 splice donor variant C/A snv 0.700 1.000 1 2015 2015