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Rs104895097

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5 familial mediterranean fever
(A;G) 3 carrier for familial mediterranean fever
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position3243205
GeneMEFV
is asnp
is mentioned by
dbSNPrs104895097
ebirs104895097
Exacrs104895097
PheGenIrs104895097
nextbiors104895097
hapmaprs104895097
1000 genomesrs104895097
hgdprs104895097
ensemblrs104895097
gopubmedrs104895097
geneviewrs104895097
scholarrs104895097
googlers104895097
pharmgkbrs104895097
gwascentralrs104895097
openSNPrs104895097
23andMers104895097
23andMe allrs104895097
SNP Nexus

SNPshotrs104895097
SNPdbers104895097
MSV3drs104895097
Max Magnitude5

rs104895097, also known as R761H, is a SNP in the MEFV gene. The equivalent SNP for 23andMe is i4000410.

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.

OMIM608107
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104895097(A;A)
Alt rs104895097(A;A)
Reference rs104895097(G;G)
Significance Pathogenic
Disease Familial Mediterranean fever
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever
Reversed 1
HGVS NC_000016.10:g.3243205C>T
CLNSRC ClinVar OMIM Allelic Variant Unité médicale des maladies autoinflammatoires
CLNACC RCV000002658.2,


[PMID 9668175] Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).