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: 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: rs28937896
rs28937896 		0.807 0.120 1 247424507 missense variant T/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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs10159239
rs10159239 		0.882 0.040 1 247443750 intron variant G/A snv 0.57
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10159239
rs10159239 		0.882 0.040 1 247443750 intron variant G/A snv 0.57
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10159239
rs10159239 		0.882 0.040 1 247443750 intron variant G/A snv 0.57
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
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: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.020 1.000 2 2014 2018
dbSNP: rs10925019
rs10925019 		0.925 0.040 1 247432548 intron variant C/T snv 0.11
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.020 1.000 2 2010 2014
dbSNP: rs4925648
rs4925648 		0.925 0.040 1 247417266 intron variant C/T snv 0.12
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0010403
Disease: Cryoglobulinemia
Cryoglobulinemia 		Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs151344629
rs151344629 		0.851 0.200 1 247424492 missense variant C/T 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 10 2002 2016
dbSNP: rs121908146
rs121908146 		0.851 0.120 1 247424765 missense variant C/T snv
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.710 1.000 6 2001 2016
dbSNP: rs121908153
rs121908153 		0.882 0.080 1 247424356 missense variant G/A;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 0.710 1.000 5 2002 2014
dbSNP: rs121908147
rs121908147 		0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 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 0.020 1.000 2 2007 2013
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: 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: rs121908150
rs121908150 		0.851 0.080 1 247424227 stop gained C/T snv
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
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: 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