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: rs1057520110
rs1057520110 		1.000 0.040 19 852978 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 1.000 13 2000 2013
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: 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: 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: rs137854446
rs137854446 		1.000 0.040 19 855978 missense variant G/T snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.800 1.000 5 1999 2013
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: 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: 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: 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: rs137854449
rs137854449 		1.000 0.040 19 853338 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 0.700 1.000 13 2000 2013
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: 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: 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1396230082
rs1396230082 		1.000 0.040 19 852882 missense variant C/A;T snv 4.5E-06; 4.5E-06
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: 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: 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: rs1555710077
rs1555710077 		1.000 0.040 19 855974 missense variant C/G 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