Gene: ELANE ×
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: rs387906553
rs387906553
ELANE
6 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.020 1.000 2 2002 2009
dbSNP: rs137854450
rs137854450
ELANE
4 0.882 0.080 19 855574 stop gained C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs28931611
rs28931611
ELANE
3 0.925 0.080 19 853019 missense variant T/C snv 0.010 1.000 1 2016 2016