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: rs397516975
rs397516975
2 0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins 0.700 0