rs878855320, ELANE

N. diseases: 2
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 0.040 19 852945 missense variant C/A;T snv 0.700 1.000 13 2000 2013
Cyclic neutropenia
CUI: C0221023
Disease: Cyclic neutropenia
14 0.925 0.040 19 852945 missense variant C/A;T snv 0.700 1.000 5 1999 2013