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: rs35829419
rs35829419 		0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular 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: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2019
dbSNP: rs10754558
rs10754558 		0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic 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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs121908147
rs121908147 		0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06
CUI: C0149642
Disease: Cervical lymphadenitis
Cervical lymphadenitis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121908152
rs121908152 		1.000 0.080 1 247425167 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 0.800 1.000 7 2002 2014
dbSNP: rs121908153
rs121908153 		0.882 0.080 1 247424356 missense variant G/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 0.800 1.000 7 2002 2014
dbSNP: rs121908154
rs121908154 		1.000 0.080 1 247424375 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 0.800 1.000 7 2002 2014
dbSNP: rs151344629
rs151344629 		0.851 0.200 1 247424492 missense variant C/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 0.700 1.000 7 2002 2014
dbSNP: rs180177433
rs180177433 		1.000 0.080 1 247424756 missense variant C/A;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 2008 2008
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: rs180177451
rs180177451 		1.000 0.080 1 247424442 missense variant C/A 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 0.010 1.000 1 2006 2006
dbSNP: rs180177468
rs180177468 		0.925 0.080 1 247424369 missense variant 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 0.010 1.000 1 2006 2006
dbSNP: rs200758008
rs200758008 		1.000 0.080 1 247425180 missense variant 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 0.010 1.000 1 2014 2014
dbSNP: rs180177432
rs180177432 		1.000 0.080 1 247424365 missense variant C/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: 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: rs180177435
rs180177435 		1.000 0.080 1 247425434 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: rs180177436
rs180177436 		1.000 0.080 1 247424240 missense variant T/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: rs180177439
rs180177439 		1.000 0.080 1 247425018 missense variant C/A;G;T snv 8.0E-06
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: rs180177442
rs180177442 		1.000 0.080 1 247424228 missense variant G/C;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 0.700 0
dbSNP: rs180177444
rs180177444 		1.000 0.080 1 247424511 missense variant 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 0.700 0
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: rs180177446
rs180177446 		1.000 0.080 1 247425345 missense variant 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 0.700 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: rs180177449
rs180177449 		1.000 0.080 1 247423964 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