rs151344629, NLRP3

N. diseases: 4
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.
Muckle-Wells Syndrome
CUI: C0268390
Disease: Muckle-Wells Syndrome
16 0.851 0.200 1 247424492 missense variant C/T snv 0.820 1.000 7 2001 2016
Cryopyrin-Associated Periodic Syndromes
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
12 0.851 0.200 1 247424492 missense variant C/T snv 0.700 1.000 10 2002 2016
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
22 0.851 0.200 1 247424492 missense variant C/T snv 0.700 1.000 7 2002 2014
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.851 0.200 1 247424492 missense variant C/T snv 0.010 1.000 1 2013 2013