rs879253882, 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.
Cyclic neutropenia
CUI: C0221023
Disease: Cyclic neutropenia
14 0.925 0.040 19 855799 splice region variant G/A snv 0.700 1.000 3 1999 2013
Neutropenia, Severe Congenital, Autosomal Dominant 1
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
26 0.925 0.040 19 855799 splice region variant G/A snv 0.700 1.000 3 1999 2013
Neutrophil count decreased
CUI: C0853697
Disease: Neutrophil count decreased
5 0.925 0.040 19 855799 splice region variant G/A snv 0.700 0