Rs104895076

Orientation

minus

is a	snp
is	mentioned by
dbSNP	rs104895076
PheGenI	rs104895076
nextbio	rs104895076
hapmap	rs104895076
1000 genomes	rs104895076
hgdp	rs104895076
ensembl	rs104895076
gopubmed	rs104895076
geneview	rs104895076
scholar	rs104895076
google	rs104895076
pharmgkb	rs104895076
gwascentral	rs104895076
openSNP	rs104895076
23andMe	rs104895076
23andMe all	rs104895076
SNP Nexus
SNPshot	rs104895076
SNPdbe	rs104895076
MSV3d	rs104895076

Gene

MEFV

Chromosome

16

Orientation

minus

Position

3304625

Reference

GRCh37 37.1/132

Max Magnitude

0

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs104895076(A;T)

Make rs104895076(T;T)

OMIM	608107
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104895076(T;T)
Normal	rs104895076(A;A)
Significance	5
Disease	Familial Mediterranean fever
ClinVar	info
Gene	MEFV
CLNDBN	Familial Mediterranean fever
Reversed	1
CLNHGVS	NC_000016.9:g.3304625T>A
CLNSRC	OMIM Allelic Variant

[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.