rs57246956, 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 0.882 0.080 19 855649 missense variant G/A;T snv 0.800 1.000 16 2000 2015
Cyclic neutropenia
CUI: C0221023
Disease: Cyclic neutropenia
14 0.882 0.080 19 855649 missense variant G/A;T snv 0.700 1.000 5 2001 2015
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.882 0.080 19 855649 missense variant G/A;T snv 0.010 1.000 1 2015 2015