NCF2, neutrophil cytosolic factor 2, 4688

N. diseases: 90; N. variants: 30
Disease: Lupus Erythematosus, Systemic ×
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: rs17849502
rs17849502 		0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.720 1.000 4 2012 2019
dbSNP: rs10911363
rs10911363 		0.925 0.120 1 183580622 intron variant G/T snv 0.30
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 1.000 2 2009 2011
dbSNP: rs13306575
rs13306575 		1.000 0.080 1 183563302 missense variant G/A;C;T snv 1.9E-02; 4.0E-06; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 1.000 2 2015 2016
dbSNP: rs17849501
rs17849501 		1.000 0.080 1 183573188 synonymous variant C/T snv 3.4E-02 3.6E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2015 2016