Source: ALL

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: 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: C0010068
Disease: Coronary heart disease
Coronary heart 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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2020 2020
dbSNP: rs10754558
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0702166
Disease: Acne
Acne 		0.010 1.000 1 2019 2019
dbSNP: rs10754558
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		0.010 1.000 1 2019 2019
dbSNP: rs12143966
rs12143966
NLRP3
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
NLRP3
1.000 0.040 1 247438055 intron variant G/A snv 0.33
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 1.000 1 2019 2019
dbSNP: rs1477422925
rs1477422925
NLRP3
1.000 0.040 1 247418853 missense variant T/A snv 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2019 2019
dbSNP: rs1539019
rs1539019
NLRP3
0.882 0.240 1 247436999 intron variant A/C snv 0.63
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2019 2019
dbSNP: rs180177456
rs180177456
NLRP3
0.925 0.160 1 247424426 missense variant G/A snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 < 0.001 1 2019 2019
dbSNP: rs180177456
rs180177456
NLRP3
0.925 0.160 1 247424426 missense variant G/A snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		0.010 < 0.001 1 2019 2019
dbSNP: rs34298354
rs34298354
NLRP3
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 		0.010 1.000 1 2019 2019
dbSNP: rs35829419
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.010 1.000 1 2019 2019
dbSNP: rs35829419
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 < 0.001 1 2019 2019
dbSNP: rs35829419
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs35829419
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 1.000 1 2019 2019
dbSNP: rs3806268
rs3806268
NLRP3
0.925 0.200 1 247424175 synonymous variant G/A;T snv 0.50; 4.8E-05
CUI: C0026916
Disease: Mycobacterium avium-intracellulare Infection
Mycobacterium avium-intracellulare Infection 		0.010 1.000 1 2019 2019
dbSNP: rs537715421
rs537715421
NLRP3
1.000 0.040 1 247419020 missense variant G/A;T snv 6.0E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2019 2019
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
dbSNP: rs10754558
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2018 2018
dbSNP: rs10754558
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.010 1.000 1 2018 2018
dbSNP: rs10754558
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2018 2018
dbSNP: rs10754558
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2018 2018
dbSNP: rs10802502
rs10802502
NLRP3
1 247448993 3 prime UTR variant C/T snv 0.55
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 < 0.001 1 2018 2018
dbSNP: rs10925027
rs10925027
NLRP3 ; OR2B11
1 247449260 3 prime UTR variant T/C snv 0.58
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018