Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895296
rs104895296
MVK
0.700 GeneticVariation UNIPROT MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. 15536479

2005
dbSNP: rs104895296
rs104895296
MVK
0.700 GeneticVariation UNIPROT Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. 11313768

2001
dbSNP: rs104895296
rs104895296
MVK
0.700 GeneticVariation UNIPROT Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. 11313769

2001
dbSNP: rs104895296
rs104895296
MVK
0.700 GeneticVariation UNIPROT Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. 10369261

1999
dbSNP: rs104895296
rs104895296
MVK
0.700 GeneticVariation UNIPROT Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. 10369262

1999