Gene: MEFV ×
Source: CLINVAR ×
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: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR A candidate gene for familial Mediterranean fever. 9288094

1997
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 CausalMutation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
dbSNP: rs28940580
rs28940580
MEFV
G 0.890 CausalMutation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
dbSNP: rs28940580
rs28940580
MEFV
T 0.890 CausalMutation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
dbSNP: rs780770024
rs780770024
MEFV
A 0.700 GeneticVariation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
dbSNP: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). 9781020

1998
dbSNP: rs28940578
rs28940578
MEFV
T 0.900 CausalMutation CLINVAR Pyrin/marenostrin mutations in familial Mediterranean fever. 10024914

1998
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 CausalMutation CLINVAR Pyrin/marenostrin mutations in familial Mediterranean fever. 10024914

1998
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). 9781020

1998
dbSNP: rs61752717
rs61752717
MEFV
C 0.900 CausalMutation CLINVAR Pyrin/marenostrin mutations in familial Mediterranean fever. 10024914

1998
dbSNP: rs28940580
rs28940580
MEFV
T 0.890 CausalMutation CLINVAR Pyrin/marenostrin mutations in familial Mediterranean fever. 10024914

1998
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). 9668175

1998
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 CausalMutation CLINVAR In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). 9668175

1998
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 CausalMutation CLINVAR In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). 9668175

1998
dbSNP: rs104895094
rs104895094
MEFV
C 0.810 CausalMutation CLINVAR In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). 9668175

1998
dbSNP: rs104895094
rs104895094
MEFV
C 0.810 GeneticVariation CLINVAR In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). 9668175

1998
dbSNP: rs104895083
rs104895083
MEFV
C 0.800 CausalMutation CLINVAR In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). 9668175

1998
dbSNP: rs104895091
rs104895091
MEFV
T 0.700 CausalMutation CLINVAR Pyrin/marenostrin mutations in familial Mediterranean fever. 10024914

1998