Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908150
rs121908150
NLRP3
0.851 0.080 1 247424227 stop gained C/T snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		0.820 1.000 2 2001 2014
dbSNP: rs151344629
rs151344629
NLRP3
0.851 0.200 1 247424492 missense variant C/T snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		0.820 1.000 2 2001 2016
dbSNP: rs121908153
rs121908153
NLRP3
0.882 0.080 1 247424356 missense variant G/A;C snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		0.810 1.000 1 2001 2016
dbSNP: rs121908147
rs121908147
NLRP3
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 		0.720 1.000 2 2001 2014
dbSNP: rs121908146
rs121908146
NLRP3
0.851 0.120 1 247424765 missense variant C/T snv
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		0.710 1.000 1 2001 2016
dbSNP: rs121908153
rs121908153
NLRP3
0.882 0.080 1 247424356 missense variant G/A;C snv
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		0.710 1.000 1 2002 2014
dbSNP: rs180177433
rs180177433
NLRP3
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 		0.710 1.000 1 2008 2008
dbSNP: rs180177438
rs180177438
NLRP3
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 		0.710 1.000 1 2003 2003
dbSNP: rs1395271150
rs1395271150
NLRP3
1.000 0.080 1 247423230 missense variant G/C;T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.040 1.000 4 2015 2019
dbSNP: rs35829419
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.040 0.500 4 2010 2017
dbSNP: rs10754558
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.030 1.000 3 2014 2018
dbSNP: rs35829419
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.030 0.667 3 2009 2016
dbSNP: rs10754558
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 1.000 2 2014 2018
dbSNP: rs10754558
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2013 2015
dbSNP: rs10754558
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.020 1.000 2 2010 2012
dbSNP: rs10925019
rs10925019
NLRP3
0.925 0.040 1 247432548 intron variant C/T snv 0.11
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 1.000 2 2010 2014
dbSNP: rs121908147
rs121908147
NLRP3
0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		0.020 1.000 2 2007 2013
dbSNP: rs180177470
rs180177470
NLRP3
1.000 0.080 1 247424380 missense variant G/A snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		0.020 1.000 2 2011 2016
dbSNP: rs35829419
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		0.020 1.000 2 2013 2016
dbSNP: rs35829419
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.020 1.000 2 2011 2019
dbSNP: rs1003706636
rs1003706636
NLRP3
1.000 0.120 1 247424639 missense variant T/C snv
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.010 1.000 1 2015 2015
dbSNP: rs10159239
rs10159239
NLRP3
0.882 0.040 1 247443750 intron variant G/A snv 0.57
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 1.000 1 2020 2020
dbSNP: rs10159239
rs10159239
NLRP3
0.882 0.040 1 247443750 intron variant G/A snv 0.57
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2020 2020
dbSNP: rs10159239
rs10159239
NLRP3
0.882 0.040 1 247443750 intron variant G/A snv 0.57
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2020 2020
dbSNP: rs10754557
rs10754557
NLRP3
1.000 0.040 1 247435930 intron variant G/A snv 0.59 0.51
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		0.010 1.000 1 2018 2018