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rs104895094

From SNPedia

Orientationminus
Stabilizedminus
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, autosomal recessive
ReferenceGRCh38 38.1/142
Chromosome16
Position3243403
GeneMEFV
is asnp
is mentioned by
dbSNPrs104895094
dbSNP (old)rs104895094
ClinGenrs104895094
ebirs104895094
HLIrs104895094
Exacrs104895094
Gnomadrs104895094
Varsomers104895094
Maprs104895094
PheGenIrs104895094
Biobankrs104895094
1000 genomesrs104895094
hgdprs104895094
ensemblrs104895094
gopubmedrs104895094
geneviewrs104895094
scholarrs104895094
googlers104895094
pharmgkbrs104895094
gwascentralrs104895094
openSNPrs104895094
23andMers104895094
23andMe allrs104895094
SNP Nexus

SNPshotrs104895094
SNPdbers104895094
MSV3drs104895094
GWAS Ctlgrs104895094
GMAF0.003214
Max Magnitude5

rs104895094, also known as c.2084A>G, p.Lys695Arg or K695R, is a SNP in the MEFV gene. The risk allele is given as (C) by 23andMe, however in dbSNP orientation, the risk allele is (G).

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
Variant0010
Relatedalso
ClinVar
Risk Rs104895094(G;G) rs104895094(T;T)
Alt Rs104895094(G;G) rs104895094(T;T)
Reference Rs104895094(A;A)
Significance Other
Disease Familial Mediterranean fever not provided Familial mediterranean fever Abnormality of the teeth Cachexia Intermittent diarrhea Peripheral neuropathy Syncope Urticaria
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever not provided Familial mediterranean fever, autosomal dominant Abnormality of the teeth Cachexia Intermittent diarrhea Peripheral neuropathy Syncope Urticaria
Reversed 1
HGVS NC_000016.9:g.3293403T>A; NC_000016.9:g.3293403T>C
CLNSRC UniProtKB (protein) OMIM Allelic Variant
CLNACC RCV000083741.1, RCV000002656.5, RCV000196026.1, RCV000213470.2, RCV000349323.1, RCV000415431.1,


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