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: rs879253882
rs879253882
ELANE
3 0.925 0.040 19 855799 splice region variant G/A snv 0.700 1.000 3 1999 2013