ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10409474
rs10409474 		19 850733 upstream gene variant C/G snv 0.16
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs387906553
rs387906553 		0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2002 2009
dbSNP: rs387906553
rs387906553 		0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2002 2009
dbSNP: rs387906553
rs387906553 		0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs387906553
rs387906553 		0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs387906553
rs387906553 		0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs387906553
rs387906553 		0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs57246956
rs57246956 		0.882 0.080 19 855649 missense variant G/A;T snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.800 1.000 16 2000 2015
dbSNP: rs137854450
rs137854450 		0.882 0.080 19 855574 stop gained C/A;T snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.800 1.000 14 2000 2013
dbSNP: rs137854450
rs137854450 		0.882 0.080 19 855574 stop gained C/A;T snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.810 1.000 7 1999 2016
dbSNP: rs57246956
rs57246956 		0.882 0.080 19 855649 missense variant G/A;T snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.700 1.000 5 2001 2015
dbSNP: rs137854450
rs137854450 		0.882 0.080 19 855574 stop gained C/A;T snv
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs137854450
rs137854450 		0.882 0.080 19 855574 stop gained C/A;T snv
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs57246956
rs57246956 		0.882 0.080 19 855649 missense variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs137854447
rs137854447 		0.925 0.040 19 852990 missense variant C/A;G;T snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.800 1.000 15 1999 2016
dbSNP: rs137854445
rs137854445 		0.925 0.040 19 856019 missense variant G/A;C snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs137854448
rs137854448 		0.925 0.040 19 855613 missense variant C/T snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.800 1.000 13 2000 2013
dbSNP: rs137854451
rs137854451 		0.925 0.080 19 856000 missense variant G/A snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.800 1.000 13 2000 2013
dbSNP: rs28931611
rs28931611 		0.925 0.080 19 853019 missense variant T/C snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.800 1.000 13 2000 2013
dbSNP: rs878855320
rs878855320 		0.925 0.040 19 852945 missense variant C/A;T snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs137854447
rs137854447 		0.925 0.040 19 852990 missense variant C/A;G;T snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.800 1.000 8 1999 2016
dbSNP: rs137854445
rs137854445 		0.925 0.040 19 856019 missense variant G/A;C snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.800 1.000 5 1999 2013
dbSNP: rs137854448
rs137854448 		0.925 0.040 19 855613 missense variant C/T snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.800 1.000 5 1999 2013
dbSNP: rs878855320
rs878855320 		0.925 0.040 19 852945 missense variant C/A;T snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.700 1.000 5 1999 2013
dbSNP: rs879253882
rs879253882 		0.925 0.040 19 855799 splice region variant G/A snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.700 1.000 3 1999 2013