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: 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: rs201139487
rs201139487 		1.000 0.040 19 855967 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		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
dbSNP: rs879253882
rs879253882 		0.925 0.040 19 855799 splice region variant G/A snv
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		0.700 0
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: 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: 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: 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: rs200993994
rs200993994 		1.000 0.040 19 855625 missense variant G/A;T snv 1.7E-04
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.700 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
dbSNP: rs879253882
rs879253882 		0.925 0.040 19 855799 splice region variant G/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 3 1999 2013
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: 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