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: rs2027432
rs2027432 		0.882 0.160 1 247415139 upstream gene variant A/G;T snv
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs2027432
rs2027432 		0.882 0.160 1 247415139 upstream gene variant A/G;T snv
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs2027432
rs2027432 		0.882 0.160 1 247415139 upstream gene variant A/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
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: rs12137901
rs12137901 		0.882 0.200 1 247417907 intron variant T/C snv 0.26
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2015 2015
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: rs12137901
rs12137901 		0.882 0.200 1 247417907 intron variant T/C snv 0.26
CUI: C0149896
Disease: Primary gout
Primary gout 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
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: 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: rs7512998
rs7512998 		0.882 0.200 1 247419919 intron variant C/T snv 0.83
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7512998
rs7512998 		0.882 0.200 1 247419919 intron variant C/T snv 0.83
CUI: C0149896
Disease: Primary gout
Primary gout 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
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: rs12048215
rs12048215 		0.882 0.160 1 247421289 intron variant A/G snv 0.11
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs12048215
rs12048215 		0.882 0.160 1 247421289 intron variant A/G snv 0.11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12048215
rs12048215 		0.882 0.160 1 247421289 intron variant A/G snv 0.11
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs3806265
rs3806265 		0.882 0.160 1 247423034 intron variant T/C snv 0.41
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3806265
rs3806265 		0.882 0.160 1 247423034 intron variant T/C snv 0.41
CUI: C3890176
Disease: Psoriatic Juvenile Idiopathic Arthritis
Psoriatic Juvenile Idiopathic Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3806265
rs3806265 		0.882 0.160 1 247423034 intron variant T/C snv 0.41
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		Stomatognathic Diseases 0.010 1.000 1 2016 2016
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: 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: 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: rs121908147
rs121908147 		0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 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 0.800 1.000 7 2001 2014
dbSNP: rs121908147
rs121908147 		0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.720 1.000 6 2001 2014