rs147080557, NLRP12

N. diseases: 6
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 2
CUI: C2673198
Disease: Familial Cold Autoinflammatory Syndrome 2
12 0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.700 0
Arthralgia
CUI: C0003862
Disease: Arthralgia
27 0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.010 1.000 1 2011 2011
Familial cold urticaria
CUI: C0343068
Disease: Familial cold urticaria
6 0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.010 1.000 1 2011 2011
Fever
CUI: C0015967
Disease: Fever
66 0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.010 1.000 1 2011 2011
Myalgia
CUI: C0231528
Disease: Myalgia
22 0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.010 1.000 1 2011 2011
Urticaria
CUI: C0042109
Disease: Urticaria
11 0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.010 1.000 1 2011 2011