NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Keratitis Fugax Hereditaria ×
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: rs200154873
rs200154873 		1.000 0.040 1 247418855 missense variant G/A;C snv 3.2E-05
CUI: C1835697
Disease: Keratitis Fugax Hereditaria
Keratitis Fugax Hereditaria 		Eye Diseases 0.800 1.000 1 2018 2018
dbSNP: rs28937896
rs28937896 		0.807 0.120 1 247424507 missense variant T/C snv
CUI: C1835697
Disease: Keratitis Fugax Hereditaria
Keratitis Fugax Hereditaria 		Eye Diseases 0.700 0