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: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 3 2011 2019
dbSNP: rs10157379
rs10157379 		1 247442297 intron variant C/G;T snv
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2013 2016
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: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2011 2017
dbSNP: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs1539019
rs1539019 		0.882 0.240 1 247436999 intron variant A/C snv 0.63
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 2 2009 2011
dbSNP: rs1539019
rs1539019 		0.882 0.240 1 247436999 intron variant A/C snv 0.63
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 2 2009 2011
dbSNP: rs1539019
rs1539019 		0.882 0.240 1 247436999 intron variant A/C snv 0.63
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2009 2011
dbSNP: rs10157379
rs10157379 		1 247442297 intron variant C/G;T snv
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2013 2013
dbSNP: rs10157379
rs10157379 		1 247442297 intron variant C/G;T snv
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2013 2013
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: 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: 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: 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: 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: 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: 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: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs12239046
rs12239046 		1 247438293 intron variant T/C snv 0.58
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011