rs28931611, ELANE

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neutropenia, Severe Congenital, Autosomal Dominant 1
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
26 0.925 0.080 19 853019 missense variant T/C snv 0.800 1.000 13 2000 2013
Congenital neutropenia
CUI: C0340970
Disease: Congenital neutropenia
11 0.925 0.080 19 853019 missense variant T/C snv 0.010 1.000 1 2016 2016
Severe congenital neutropenia
CUI: C1853118
Disease: Severe congenital neutropenia
26 0.925 0.080 19 853019 missense variant T/C snv 0.010 1.000 1 2016 2016