rs104895083

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of a familial mediterranean fever mutation

Make rs104895083(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

3247166

Gene

MEFV

is a	snp
is	mentioned by
dbSNP	rs104895083
dbSNP (classic)	rs104895083
ClinGen	rs104895083
ebi	rs104895083
HLI	rs104895083
Exac	rs104895083
Gnomad	rs104895083
Varsome	rs104895083
LitVar	rs104895083
Map	rs104895083
PheGenI	rs104895083
Biobank	rs104895083
1000 genomes	rs104895083
hgdp	rs104895083
ensembl	rs104895083
geneview	rs104895083
scholar	rs104895083
google	rs104895083
pharmgkb	rs104895083
gwascentral	rs104895083
openSNP	rs104895083
23andMe	rs104895083
SNPshot	rs104895083
SNPdbe	rs104895083
MSV3d	rs104895083
GWAS Ctlg	rs104895083

Max Magnitude

3

rs104895083, also known as F479L, is a SNP in the MEFV gene. The equivalent SNP for 23andMe is i4000403.

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.

OMIM	608107
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104895083(A;A) rs104895083(G;G)
Alt	rs104895083(A;A) rs104895083(G;G)
Reference	Rs104895083(C;C)
Significance	Pathogenic
Disease	Familial Mediterranean fever
Variation	info
Gene	MEFV
CLNDBN	Familial Mediterranean fever
Reversed	1
HGVS	NC_000016.9:g.3297166G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002654.4,

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