rs137854447, 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 852990 missense variant C/A;G;T snv 0.800 1.000 15 1999 2016
Cyclic neutropenia
CUI: C0221023
Disease: Cyclic neutropenia
14 0.925 0.040 19 852990 missense variant C/A;G;T snv 0.800 1.000 8 1999 2016