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: 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: rs1539019
rs1539019 		0.882 0.240 1 247436999 intron variant A/C snv 0.63
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2009 2011
dbSNP: rs1539019
rs1539019 		0.882 0.240 1 247436999 intron variant A/C snv 0.63
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs1539019
rs1539019 		0.882 0.240 1 247436999 intron variant A/C snv 0.63
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1539019
rs1539019 		0.882 0.240 1 247436999 intron variant A/C snv 0.63
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs180177488
rs180177488 		1.000 0.080 1 247424384 missense variant A/C snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs180177445
rs180177445 		1.000 0.080 1 247424662 missense variant A/C 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 0
dbSNP: rs180177452
rs180177452 		1.000 0.080 1 247436053 missense variant A/C;G 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 0
dbSNP: rs121908148
rs121908148 		1.000 0.080 1 247425329 missense variant A/G snv
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 2001 2014
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: rs12048215
rs12048215 		0.882 0.160 1 247421289 intron variant A/G snv 0.11
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs12048215
rs12048215 		0.882 0.160 1 247421289 intron variant A/G snv 0.11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12048215
rs12048215 		0.882 0.160 1 247421289 intron variant A/G snv 0.11
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs180177494
rs180177494 		1.000 0.080 1 247424344 missense variant A/G snv 4.0E-06
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
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
dbSNP: rs180177434
rs180177434 		1.000 0.080 1 247424522 missense variant A/G 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 0
dbSNP: rs180177447
rs180177447 		1.000 0.080 1 247424357 missense variant A/G 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 0
dbSNP: rs180177438
rs180177438 		1.000 0.080 1 247425158 missense variant A/G;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 0.710 1.000 1 2003 2003
dbSNP: rs2027432
rs2027432 		0.882 0.160 1 247415139 upstream gene variant A/G;T snv
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs2027432
rs2027432 		0.882 0.160 1 247415139 upstream gene variant A/G;T snv
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs2027432
rs2027432 		0.882 0.160 1 247415139 upstream gene variant A/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
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