Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.820 GeneticVariation UNIPROT

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
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: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers. 20165923

2011

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience. 25793047

2014

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population. 22019805

2011

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 GeneticVariation CLINVAR Familial Mediterranean fever in Ashkenazi Jews: the mild end of the clinical spectrum. 20008924

2010

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study. 19934083

2010

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey. 20177433

2010

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 GeneticVariation CLINVAR Renal amyloidosis due to familial mediterranean fever misdiagnosed. 23716950

2012

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 GeneticVariation CLINVAR Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey. 20177433

2010

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 GeneticVariation CLINVAR Revisiting the morbid genome of Mendelian disorders. 27884173

2016

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC). 26843738

2015

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR In the northwest of Iran (Ardabil), 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q. 25648235

2015

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 GeneticVariation CLINVAR Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey. 23031807

2012

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever. 21598806

2011

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. 20534143

2010

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. 16627024

2007

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 GeneticVariation CLINVAR Differentiating PFAPA syndrome from monogenic periodic fevers. 19786432

2009

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 GeneticVariation CLINVAR MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. 19449169

2010

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey. 23031807

2012

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations. 14578331

2003

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. 19449169

2010

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center. 17566872

2008

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 GeneticVariation CLINVAR Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC). 26843738

2015

dbSNP: rs61732874
rs61732874
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
A 0.820 CausalMutation CLINVAR Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. 10090880

1999