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: 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: rs10925019
rs10925019 		0.925 0.040 1 247432548 intron variant C/T snv 0.11
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12143966
rs12143966 		1.000 0.040 1 247438055 intron variant G/A snv 0.33
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs12143966
rs12143966 		1.000 0.040 1 247438055 intron variant G/A snv 0.33
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
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: 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: rs1477422925
rs1477422925 		1.000 0.040 1 247418853 missense variant T/A snv 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2019 2019
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
dbSNP: rs34298354
rs34298354 		1.000 0.040 1 247424751 synonymous variant C/T snv 0.10 8.7E-02
CUI: C0026916
Disease: Mycobacterium avium-intracellulare Infection
Mycobacterium avium-intracellulare Infection 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs4925648
rs4925648 		0.925 0.040 1 247417266 intron variant C/T snv 0.12
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2014 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: rs537715421
rs537715421 		1.000 0.040 1 247419020 missense variant G/A;T snv 6.0E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2019 2019
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: 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: rs121908148
rs121908148 		1.000 0.080 1 247425329 missense variant A/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 0.800 1.000 7 2001 2014
dbSNP: rs121908150
rs121908150 		0.851 0.080 1 247424227 stop gained C/T 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 1.000 7 2001 2014
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: rs145268073
rs145268073 		1.000 0.080 1 247424912 missense variant G/A;C snv 6.4E-04; 4.0E-06
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 1.000 7 2001 2014
dbSNP: rs121908153
rs121908153 		0.882 0.080 1 247424356 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 0.810 1.000 6 2001 2016
dbSNP: rs121908149
rs121908149 		1.000 0.080 1 247424504 missense variant C/T snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 2001 2014
dbSNP: rs121908150
rs121908150 		0.851 0.080 1 247424227 stop gained C/T snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.820 1.000 5 2001 2014