rs387906553, ELANE

N. diseases: 6
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 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.700 0
Congenital neutropenia
CUI: C0340970
Disease: Congenital neutropenia
11 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.020 1.000 2 2002 2009
Severe congenital neutropenia
CUI: C1853118
Disease: Severe congenital neutropenia
26 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.020 1.000 2 2002 2009
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2002 2002
leukemia
CUI: C0023418
Disease: leukemia
144 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2002 2002
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2002 2002