rs121908147, NLRP3

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Familial Cold Autoinflammatory Syndrome 1
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
8 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.800 1.000 7 2001 2014
Muckle-Wells Syndrome
CUI: C0268390
Disease: Muckle-Wells Syndrome
16 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.720 1.000 6 2001 2014
Cryopyrin-Associated Periodic Syndromes
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
12 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.020 1.000 2 2007 2013
Autoinflammatory Syndrome
CUI: C3890737
Disease: Autoinflammatory Syndrome
7 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.010 1.000 1 2004 2004
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.010 1.000 1 2007 2007
Cervical lymphadenitis
CUI: C0149642
Disease: Cervical lymphadenitis
1 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.010 1.000 1 2015 2015
Inflammatory disorder
CUI: C1290884
Disease: Inflammatory disorder
8 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.010 1.000 1 2004 2004