rs398122934

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;GCCAGTG)	5.5	Marfan syndrome mutation
(GCCAGTG;GCCAGTG)	0	common in clinvar

Make rs398122934(-;-)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48472628

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs398122934
dbSNP (classic)	rs398122934
ClinGen	rs398122934
ebi	rs398122934
HLI	rs398122934
Exac	rs398122934
Gnomad	rs398122934
Varsome	rs398122934
LitVar	rs398122934
Map	rs398122934
PheGenI	rs398122934
Biobank	rs398122934
1000 genomes	rs398122934
hgdp	rs398122934
ensembl	rs398122934
geneview	rs398122934
scholar	rs398122934
google	rs398122934
pharmgkb	rs398122934
gwascentral	rs398122934
openSNP	rs398122934
23andMe	rs398122934
SNPshot	rs398122934
SNPdbe	rs398122934
MSV3d	rs398122934
GWAS Ctlg	rs398122934

Max Magnitude

5.5

ClinVar
Risk	rs398122934(-;-)
Alt	rs398122934(-;-)
Reference	Rs398122934(GCCAGTG;GCCAGTG)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48764825_48764831delCACTGGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034311.25,