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: rs3806265
rs3806265 		0.882 0.160 1 247423034 intron variant T/C snv 0.41
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4612666
rs4612666 		0.763 0.440 1 247435768 intron variant T/C snv 0.65
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4612666
rs4612666 		0.763 0.440 1 247435768 intron variant T/C snv 0.65
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		Stomatognathic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs4612666
rs4612666 		0.763 0.440 1 247435768 intron variant T/C snv 0.65
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 < 0.001 1 2016 2016
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: rs1003706636
rs1003706636 		1.000 0.120 1 247424639 missense variant T/C snv
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 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: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3806265
rs3806265 		0.882 0.160 1 247423034 intron variant T/C snv 0.41
CUI: C3890176
Disease: Psoriatic Juvenile Idiopathic Arthritis
Psoriatic Juvenile Idiopathic Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908146
rs121908146 		0.851 0.120 1 247424765 missense variant C/T snv
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10754557
rs10754557 		1.000 0.040 1 247435930 intron variant G/A snv 0.59 0.51
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0702166
Disease: Acne
Acne 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3806265
rs3806265 		0.882 0.160 1 247423034 intron variant T/C snv 0.41
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4612666
rs4612666 		0.763 0.440 1 247435768 intron variant T/C snv 0.65
CUI: C1319853
Disease: Asthma, Aspirin-Induced
Asthma, Aspirin-Induced 		Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2009 2009
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: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
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: rs151344629
rs151344629 		0.851 0.200 1 247424492 missense variant C/T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121908153
rs121908153 		0.882 0.080 1 247424356 missense variant G/A;C snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
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: 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: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011