rs104895079

Orientation

minus

Stabilized

minus

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

Make rs104895079(C;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

3254567

Gene

MEFV

is a	snp
is	mentioned by
dbSNP	rs104895079
dbSNP (classic)	rs104895079
ClinGen	rs104895079
ebi	rs104895079
HLI	rs104895079
Exac	rs104895079
Gnomad	rs104895079
Varsome	rs104895079
LitVar	rs104895079
Map	rs104895079
PheGenI	rs104895079
Biobank	rs104895079
1000 genomes	rs104895079
hgdp	rs104895079
ensembl	rs104895079
geneview	rs104895079
scholar	rs104895079
google	rs104895079
pharmgkb	rs104895079
gwascentral	rs104895079
openSNP	rs104895079
23andMe	rs104895079
SNPshot	rs104895079
SNPdbe	rs104895079
MSV3d	rs104895079
GWAS Ctlg	rs104895079

Max Magnitude

3

OMIM	608107
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104895079(C;C)
Alt	rs104895079(C;C)
Reference	Rs104895079(G;G)
Significance	Pathogenic
Disease	Familial Mediterranean fever
Variation	info
Gene	MEFV
CLNDBN	Familial Mediterranean fever
Reversed	1
HGVS	NC_000016.9:g.3304567C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002652.4,

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