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: rs139292
rs139292
1 1.000 22 39100318 inframe deletion CAA/- delins 0.010 1.000 1 2016 2016
dbSNP: rs139297
rs139297
1 1.000 22 39101399 missense variant G/A;C;T snv 4.0E-06; 0.47 0.010 1.000 1 2016 2016