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: rs118203969
rs118203969 		1.000 0.040 17 44075328 missense variant T/C snv
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs267606834
rs267606834 		0.925 0.160 17 44074700 missense variant A/G snv
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 11 2009 2015
dbSNP: rs140294222
rs140294222 		1.000 0.040 17 44075340 missense variant G/A snv 5.5E-04 8.1E-04
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 10 2009 2015
dbSNP: rs752966267
rs752966267 		1.000 0.040 17 44071140 missense variant T/C snv
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 10 2009 2015
dbSNP: rs762019955
rs762019955 		1.000 0.040 17 44071096 missense variant C/T snv 8.0E-06
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 10 2009 2015
dbSNP: rs765927570
rs765927570 		1.000 0.040 17 44075759 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 10 2009 2015
dbSNP: rs769441127
rs769441127 		1.000 0.040 17 44071175 frameshift variant C/- del 1.1E-04; 4.0E-06 1.4E-05
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 4 2009 2017
dbSNP: rs1194477276
rs1194477276 		1.000 0.040 17 44071109 stop gained C/G;T snv 7.0E-06
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 2 2009 2014
dbSNP: rs118203968
rs118203968 		1.000 0.040 17 44075760 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs148559256
rs148559256 		1.000 0.040 17 44075831 stop gained C/T snv 1.6E-05
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs775224457
rs775224457 		1.000 0.040 17 44071095 missense variant C/T snv 3.6E-05
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797044567
rs797044567 		1.000 0.040 17 44075933 frameshift variant -/T delins
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs118203970
rs118203970 		1.000 0.040 17 44071106 stop gained C/G;T snv 8.0E-06
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs118203971
rs118203971 		1.000 0.040 17 44075786 missense variant G/C snv
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1373865222
rs1373865222 		1.000 0.040 17 44074702 missense variant G/A snv 4.0E-06
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1485073209
rs1485073209 		1.000 0.040 17 44075034 missense variant G/A;C snv
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267606834
rs267606834 		0.925 0.160 17 44074700 missense variant A/G snv
CUI: C2751630
Disease: Dursun Syndrome
Dursun Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs766706036
rs766706036 		1.000 0.040 17 44074707 missense variant C/G snv 4.0E-06
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs200478425
rs200478425 		1.000 0.040 17 44075780 missense variant G/A;C snv 4.0E-06; 5.6E-05
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs200478425
rs200478425 		1.000 0.040 17 44075780 missense variant G/A;C snv 4.0E-06; 5.6E-05
CUI: C0272173
Disease: Myelokathexis
Myelokathexis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010