rs1396230082, ELANE

N. diseases: 1
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 1.000 0.040 19 852882 missense variant C/A;T snv 4.5E-06; 4.5E-06 0.700 1.000 13 2000 2013