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: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 3 2011 2019
dbSNP: rs10157379
rs10157379 		1 247442297 intron variant C/G;T snv
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2013 2016
dbSNP: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2011 2017
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: 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: rs10802502
rs10802502 		1 247448993 3 prime UTR variant C/T snv 0.55
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2018 2018
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: rs1204135596
rs1204135596 		1 247425398 missense variant A/G snv 4.0E-06
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
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: 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: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.040 0.500 4 2010 2017
dbSNP: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.030 0.667 3 2009 2016
dbSNP: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2016
dbSNP: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2019
dbSNP: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2011 2011