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: rs1555710077
rs1555710077
ELANE
1 1.000 0.040 19 855974 missense variant C/G snv 0.700 1.000 13 2000 2013