Gene: MEFV ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895081
rs104895081
MEFV
A 0.810 CausalMutation CLINVAR

dbSNP: rs104895079
rs104895079
MEFV
G 0.800 CausalMutation CLINVAR

dbSNP: rs11466045
rs11466045
MEFV
G 0.800 CausalMutation CLINVAR

dbSNP: rs104895093
rs104895093
MEFV
C 0.700 CausalMutation CLINVAR

dbSNP: rs104895098
rs104895098
MEFV
C 0.700 CausalMutation CLINVAR

dbSNP: rs876660990
rs876660990
MEFV
A 0.700 CausalMutation CLINVAR

dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR "Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?" 21413889

2011
dbSNP: rs104895094
rs104895094
MEFV
C 0.810 GeneticVariation CLINVAR "Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?" 21413889

2011
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR "Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?" 21413889

2011
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 CausalMutation CLINVAR "Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?" 21413889

2011
dbSNP: rs780770024
rs780770024
MEFV
A 0.700 GeneticVariation CLINVAR "Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?" 21413889

2011
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR "The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination ""hot-spot"" at the MEFV locus." 15024744

2004
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 CausalMutation CLINVAR 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. 21995303

2012
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. 21995303

2012
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 CausalMutation CLINVAR 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. 20534143

2010
dbSNP: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations. 24318677

2014
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations. 24318677

2014
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 GeneticVariation CLINVAR FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations. 24318677

2014
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis. 26351556

2015
dbSNP: rs11466023
rs11466023
MEFV
A 0.860 CausalMutation CLINVAR P369S/R408Q substitutions are associated with a highly variable phenotype, and are infrequently associated with typical FMF symptoms, however a trial of colchicine is warranted in all. 19934105

2010
dbSNP: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR A candidate gene for familial Mediterranean fever. 9288094

1997
dbSNP: rs150819742
rs150819742
MEFV
T 0.700 CausalMutation CLINVAR A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Mediterranean fever was diagnosed. 26027984

2015
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 CausalMutation CLINVAR A rare cause of ascites: Familial Mediterranean fever. 18386244

2008
dbSNP: rs150819742
rs150819742
MEFV
T 0.700 CausalMutation CLINVAR Acute pericarditis as the first manifestation of familial Mediterranean fever: a possible relationship with idiopathic recurrent pericarditis. 25088882

2014
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. 26620106

2016