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: rs1555710005
rs1555710005 		0.925 0.040 19 855795 splice donor 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 2 1999 2013
dbSNP: rs1555710005
rs1555710005 		0.925 0.040 19 855795 splice donor variant G/A;C snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.700 1.000 2 1999 2013
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: 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: rs137854451
rs137854451 		0.925 0.080 19 856000 missense variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1417841099
rs1417841099 		1.000 0.120 19 852917 missense variant C/G snv 4.6E-06
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs28931611
rs28931611 		0.925 0.080 19 853019 missense variant T/C 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: rs28931611
rs28931611 		0.925 0.080 19 853019 missense variant T/C 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: 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: 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: rs781530030
rs781530030 		1.000 0.120 19 852906 missense variant G/A snv 4.6E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs797045009
rs797045009 		1.000 0.040 19 855758 stop gained C/A snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1064793108
rs1064793108 		1.000 0.040 19 853288 missense variant T/C snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1131691520
rs1131691520 		0.925 0.040 19 853395 missense variant A/T snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1131691520
rs1131691520 		0.925 0.040 19 853395 missense variant A/T snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1131691882
rs1131691882 		1.000 0.040 19 852965 missense variant C/T snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs201117839
rs201117839 		1.000 0.080 19 855957 splice acceptor variant G/A snv 1.2E-05
CUI: C1845987
Disease: Neutropenia, Severe Congenital, X-Linked
Neutropenia, Severe Congenital, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
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: rs730880095
rs730880095 		1.000 0.040 19 855955 splice region variant C/G snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs745455816
rs745455816 		1.000 0.040 19 853345 missense variant G/A;T snv 4.2E-06
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs797045007
rs797045007 		1.000 0.040 19 852380 missense variant G/C snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.700 0