Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3743930
rs3743930
MEFV
0.020 GeneticVariation BEFREE Significant increase in abdominal pain and arthritis was found in patients with homozygote M694V mutation compared to those with E148Q mutation. 19777236

2010
dbSNP: rs3743930
rs3743930
MEFV
0.020 GeneticVariation BEFREE Although four of the 26 patients with E148Q/E148Q were asymptomatic at the time of evaluation, abdominal pain was seen in 77% of the patients, fever in 66%, arthralgia in 50%, arthritis in 15.4%, and vomiting in 23.8%. 15458961

2005