rs104895105

Orientation

minus

Stabilized

minus

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

Make rs104895105(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

3247171

Gene

MEFV

is a	snp
is	mentioned by
dbSNP	rs104895105
dbSNP (classic)	rs104895105
ClinGen	rs104895105
ebi	rs104895105
HLI	rs104895105
Exac	rs104895105
Gnomad	rs104895105
Varsome	rs104895105
LitVar	rs104895105
Map	rs104895105
PheGenI	rs104895105
Biobank	rs104895105
1000 genomes	rs104895105
hgdp	rs104895105
ensembl	rs104895105
geneview	rs104895105
scholar	rs104895105
google	rs104895105
pharmgkb	rs104895105
gwascentral	rs104895105
openSNP	rs104895105
23andMe	rs104895105
SNPshot	rs104895105
SNPdbe	rs104895105
MSV3d	rs104895105
GWAS Ctlg	rs104895105

Max Magnitude

3

OMIM	608107
Desc
Variant	0020
Related	also

ClinVar
Risk	rs104895105(T;T)
Alt	rs104895105(T;T)
Reference	Rs104895105(C;C)
Significance	Pathogenic
Disease	Familial mediterranean fever Familial Mediterranean fever
Variation	info
Gene	MEFV
CLNDBN	Familial mediterranean fever, autosomal dominant Familial Mediterranean fever
Reversed	1
HGVS	NC_000016.9:g.3297171G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002666.3, RCV000083696.1,