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: rs1554086554
rs1554086554
1 5 114404815 inframe deletion TAT/- delins 0.700 1.000 21 1999 2016