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: rs28937896
rs28937896 		0.807 0.120 1 247424507 missense variant T/C 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 0
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: rs180177430
rs180177430 		1.000 0.080 1 247424764 missense variant G/A;C snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs180177431
rs180177431 		0.925 0.080 1 247424363 missense variant T/C 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 0.700 0
dbSNP: rs180177431
rs180177431 		0.925 0.080 1 247424363 missense variant T/C snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
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
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: rs180177478
rs180177478 		1.000 0.080 1 247425017 missense variant T/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 0.700 0
dbSNP: rs28937896
rs28937896 		0.807 0.120 1 247424507 missense variant T/C snv
CUI: C4521680
Disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 		0.700 0
dbSNP: rs28937896
rs28937896 		0.807 0.120 1 247424507 missense variant T/C snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells 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: rs28937896
rs28937896 		0.807 0.120 1 247424507 missense variant T/C snv
CUI: C1835697
Disease: Keratitis Fugax Hereditaria
Keratitis Fugax Hereditaria 		Eye Diseases 0.700 0
dbSNP: rs200154873
rs200154873 		1.000 0.040 1 247418855 missense variant G/A;C snv 3.2E-05
CUI: C1835697
Disease: Keratitis Fugax Hereditaria
Keratitis Fugax Hereditaria 		Eye Diseases 0.800 1.000 1 2018 2018