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rs61752717

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a familial mediterranean fever mutation
(G;G) 5 familial mediterranean fever
ReferenceGRCh38 38.1/142
Chromosome16
Position3243407
GeneMEFV
is asnp
is mentioned by
dbSNPrs61752717
ebirs61752717
HLIrs61752717
Exacrs61752717
Varsomers61752717
Maprs61752717
PheGenIrs61752717
hapmaprs61752717
1000 genomesrs61752717
hgdprs61752717
ensemblrs61752717
gopubmedrs61752717
geneviewrs61752717
scholarrs61752717
googlers61752717
pharmgkbrs61752717
gwascentralrs61752717
openSNPrs61752717
23andMers61752717
23andMe allrs61752717
SNP Nexus

SNPshotrs61752717
SNPdbers61752717
MSV3drs61752717
GWAS Ctlgrs61752717
Max Magnitude5

rs61752717, also known as c.2080A>G, p.Met694Val or M694V, is a SNP in the MEFV gene. The minor (G) allele is considered pathogenic by numerous sources including ClinVar for Familial Mediterranean Fever (FMF) when inherited in two copies or as a compound heterozygote.

rs61752717(G;G) individuals tend to have an earlier age of onset and higher frequencies of arthritis and arthralgia than persons carrying other pathogenic FMF variants.[PMID 15643295]

A significant association has lalso been identified between rs61752717(G) and the development of amyloidosis, especially in those who are homozygous for this pathogenic variant.[PMID 18353061],[PMID 20008920]

OMIM608107
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61752717(G,T;G,T)
Alt rs61752717(G,T;G,T)
Reference rs61752717(A;A)
Significance Pathogenic
Disease Familial Mediterranean fever not provided
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever not provided
Reversed 1
HGVS NC_000016.9:g.3293407T>A; NC_000016.9:g.3293407T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000083739.1, RCV000002647.2, RCV000216751.1,



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


[PMID 19790133] Familial mediterranean Fever in the world.