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rs28940580

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3.5 familial Mediterranean fever
(A;C) 3.5 familial Mediterranean fever
(A;G) 3 Carrier of a familial mediterranean fever mutation
(C;C) 1.5 can be ignored for now
(C;G) 3 Carrier of a familial mediterranean fever mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position3243447
GeneMEFV
is asnp
is mentioned by
dbSNPrs28940580
ebirs28940580
HLIrs28940580
Exacrs28940580
Varsomers28940580
Maprs28940580
PheGenIrs28940580
hapmaprs28940580
1000 genomesrs28940580
hgdprs28940580
ensemblrs28940580
gopubmedrs28940580
geneviewrs28940580
scholarrs28940580
googlers28940580
pharmgkbrs28940580
gwascentralrs28940580
openSNPrs28940580
23andMers28940580
23andMe allrs28940580
SNP Nexus

SNPshotrs28940580
SNPdbers28940580
MSV3drs28940580
GWAS Ctlgrs28940580
Max Magnitude3.5
OMIM608107
DescFAMILIAL MEDITERRANEAN FEVER
Variant0004
Relatedalso
Neighborrs28940577
Distance37
Neighborrs28940581
Distance85
rs28940580, also known as c.2040G>C, p.Met680Ile or M680I, is a SNP in the MEFV gene. The risk allele is given as (G) by 23andMe, however in dbSNP orientation, the risk allele is (C).

The symptoms of familial Mediterranean fever are caused by the person's own inflammatory response; it is not an infectious disease. The condition is more common among Turks, Sephardic Jews, and people of Arab and Armenian ancestry.


ClinVar
Risk rs28940580(A,C;A,C)
Alt rs28940580(A,C;A,C)
Reference rs28940580(G;G)
Significance Pathogenic
Disease not provided Familial Mediterranean fever
Variation info
Gene MEFV
CLNDBN not provided Familial Mediterranean fever
Reversed 1
HGVS NC_000016.9:g.3293447C>A; NC_000016.9:g.3293447C>G; NC_000016.9:g.3293447C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000220209.1, RCV000030179.2, RCV000222364.1, RCV000002659.2, RCV000216518.1,



[PMID 19784369OA-icon.png] Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.


[PMID 12401] [X-ray assessment of the motor-evacuatory function of the gastrointestinal tract in the diagnosis of the dumping-syndrome].


[PMID 10024914] Pyrin/marenostrin mutations in familial Mediterranean fever.


[PMID 10737995] The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?


[PMID 11017802OA-icon.png] Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.


[PMID 12105243] Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.


[PMID 16439335] Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.


[PMID 27796522] The association between MEFV gene polymorphisms and Henoch-Schönlein purpura, and additional SNP-SNP interactions in Chinese Han children.