NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Familial cold urticaria ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908146
rs121908146 		0.851 0.120 1 247424765 missense variant C/T snv
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121908150
rs121908150 		0.851 0.080 1 247424227 stop gained C/T snv
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002