Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1328913013
rs1328913013
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever. 21562927

2012
dbSNP: rs1328913013
rs1328913013
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR Familial Mediterranean fever with a single MEFV mutation: where is the second hit? 19479870

2009