rs104895081

Orientation

minus

Stabilized

minus

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

Make rs104895081(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

3254268

Gene

MEFV

is a	snp
is	mentioned by
dbSNP	rs104895081
dbSNP (classic)	rs104895081
ClinGen	rs104895081
ebi	rs104895081
HLI	rs104895081
Exac	rs104895081
Gnomad	rs104895081
Varsome	rs104895081
LitVar	rs104895081
Map	rs104895081
PheGenI	rs104895081
Biobank	rs104895081
1000 genomes	rs104895081
hgdp	rs104895081
ensembl	rs104895081
geneview	rs104895081
scholar	rs104895081
google	rs104895081
pharmgkb	rs104895081
gwascentral	rs104895081
openSNP	rs104895081
23andMe	rs104895081
SNPshot	rs104895081
SNPdbe	rs104895081
MSV3d	rs104895081
GWAS Ctlg	rs104895081

Max Magnitude

3

OMIM	608107
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104895081(T;T)
Alt	rs104895081(T;T)
Reference	Rs104895081(C;C)
Significance	Pathogenic
Disease	Familial Mediterranean fever
Variation	info
Gene	MEFV
CLNDBN	Familial Mediterranean fever
Reversed	1
HGVS	NC_000016.9:g.3304268G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002653.4,

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