Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200154873
rs200154873
C 0.800 GeneticVariation CLINVAR Keratoendotheliitis fugax hereditaria is an autoinflammatory cryopyrin-associated periodic syndrome caused by a missense mutation c.61G>C in exon 1 of NLRP3 in Finnish patients. 29366613

2018

dbSNP: rs200154873
rs200154873
C 0.800 CausalMutation CLINVAR

dbSNP: rs200154873
rs200154873
0.800 GeneticVariation UNIPROT

dbSNP: rs28937896
rs28937896
C 0.700 CausalMutation CLINVAR