NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
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: rs151344629
rs151344629 		0.851 0.200 1 247424492 missense variant C/T snv
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 7 2002 2014
dbSNP: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs1539019
rs1539019 		0.882 0.240 1 247436999 intron variant A/C snv 0.63
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 2 2009 2011
dbSNP: rs1539019
rs1539019 		0.882 0.240 1 247436999 intron variant A/C snv 0.63
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 2 2009 2011
dbSNP: rs28937896
rs28937896 		0.807 0.120 1 247424507 missense variant T/C snv
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2003 2005
dbSNP: rs10157379
rs10157379 		1 247442297 intron variant C/G;T snv
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2013 2013
dbSNP: rs10157379
rs10157379 		1 247442297 intron variant C/G;T snv
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2013 2013
dbSNP: rs10925027
rs10925027 		1 247449260 3 prime UTR variant T/C snv 0.58
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12143966
rs12143966 		1.000 0.040 1 247438055 intron variant G/A snv 0.33
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011
dbSNP: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
dbSNP: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs144084486
rs144084486 		1 247440079 intron variant CGTGTTAGGTATAGCCTA/-;CGTGTTAGGTATAGCCTACGTGTTAGGTATAGCCTA delins 0.61
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1553293095
rs1553293095 		1.000 1 247444061 missense variant G/A snv
CUI: C4521680
Disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 		0.700 1.000 1 2017 2017
dbSNP: rs180177458
rs180177458 		1.000 0.080 1 247425022 missense variant G/A snv
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs4925659
rs4925659 		1 247440161 intron variant G/A snv 0.33
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
dbSNP: rs4925659
rs4925659 		1 247440161 intron variant G/A snv 0.33
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011
dbSNP: rs4925659
rs4925659 		1 247440161 intron variant G/A snv 0.33
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2011 2011
dbSNP: rs67090117
rs67090117 		1 247439006 intron variant T/A;G snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1057518827
rs1057518827 		1.000 0.040 1 247425248 missense variant A/G snv
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1057518827
rs1057518827 		1.000 0.040 1 247425248 missense variant A/G snv
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518827
rs1057518827 		1.000 0.040 1 247425248 missense variant A/G snv
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		Respiratory Tract Diseases 0.700 0