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: 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: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4612666
rs4612666 		0.763 0.440 1 247435768 intron variant T/C snv 0.65
CUI: C3266959
Disease: Acute focal bacterial nephritis
Acute focal bacterial nephritis 		0.010 1.000 1 2015 2015
dbSNP: rs4612666
rs4612666 		0.763 0.440 1 247435768 intron variant T/C snv 0.65
CUI: C0520575
Disease: Acute pyelonephritis
Acute pyelonephritis 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1395271150
rs1395271150 		1.000 0.080 1 247423230 missense variant G/C;T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 2015 2019
dbSNP: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4612666
rs4612666 		0.763 0.440 1 247435768 intron variant T/C snv 0.65
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
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: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
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: rs12137901
rs12137901 		0.882 0.200 1 247417907 intron variant T/C snv 0.26
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2015 2015
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: rs7512998
rs7512998 		0.882 0.200 1 247419919 intron variant C/T snv 0.83
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2015 2015
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: rs747885829
rs747885829 		1.000 0.040 1 247423957 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs774842795
rs774842795 		0.925 0.120 1 247444692 missense variant T/C snv 4.0E-06
CUI: C3553961
Disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED 		Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs180177468
rs180177468 		0.925 0.080 1 247424369 missense variant G/T snv
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		0.010 1.000 1 2006 2006
dbSNP: rs121908147
rs121908147 		0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2004 2004
dbSNP: rs141389711
rs141389711 		1.000 0.040 1 247434206 missense variant G/A snv 8.4E-05 6.3E-05
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs121908147
rs121908147 		0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
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: rs1219605554
rs1219605554 		1.000 0.040 1 247425505 missense variant C/T snv 4.0E-06
CUI: C0006309
Disease: Brucellosis
Brucellosis 		Infections 0.010 1.000 1 2013 2013
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: 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: 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