rs104895076

Orientation

minus

Stabilized

minus

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

Make rs104895076(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

3254625

Gene

MEFV

is a	snp
is	mentioned by
dbSNP	rs104895076
dbSNP (classic)	rs104895076
ClinGen	rs104895076
ebi	rs104895076
HLI	rs104895076
Exac	rs104895076
Gnomad	rs104895076
Varsome	rs104895076
LitVar	rs104895076
Map	rs104895076
PheGenI	rs104895076
Biobank	rs104895076
1000 genomes	rs104895076
hgdp	rs104895076
ensembl	rs104895076
geneview	rs104895076
scholar	rs104895076
google	rs104895076
pharmgkb	rs104895076
gwascentral	rs104895076
openSNP	rs104895076
23andMe	rs104895076
SNPshot	rs104895076
SNPdbe	rs104895076
MSV3d	rs104895076
GWAS Ctlg	rs104895076

Max Magnitude

3

OMIM	608107
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104895076(C;C) rs104895076(T;T)
Alt	rs104895076(C;C) rs104895076(T;T)
Reference	Rs104895076(A;A)
Significance	Other
Disease	Familial Mediterranean fever not specified not provided
Variation	info
Gene	MEFV
CLNDBN	Familial Mediterranean fever not specified not provided
Reversed	1
HGVS	NC_000016.9:g.3304625T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002663.6, RCV000216721.1, RCV000415966.1,

[PMID 15475] [Study of a new anesthetic agent: Etomidate (R 26490). Unusual electroencephalic aspects].

[PMID 14578331] Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.

[PMID 15643295] Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.

[PMID 15951859] Genetic screening of familial Mediterranean fever mutations in the Palestinian population.

[PMID 16378925] Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

[PMID 17489852] MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.