rs397515803

Orientation

minus

Stabilized

minus

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

Make rs397515803(-;-)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48472628

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515803
dbSNP (classic)	rs397515803
ClinGen	rs397515803
ebi	rs397515803
HLI	rs397515803
Exac	rs397515803
Gnomad	rs397515803
Varsome	rs397515803
LitVar	rs397515803
Map	rs397515803
PheGenI	rs397515803
Biobank	rs397515803
1000 genomes	rs397515803
hgdp	rs397515803
ensembl	rs397515803
geneview	rs397515803
scholar	rs397515803
google	rs397515803
pharmgkb	rs397515803
gwascentral	rs397515803
openSNP	rs397515803
23andMe	rs397515803
SNPshot	rs397515803
SNPdbe	rs397515803
MSV3d	rs397515803
GWAS Ctlg	rs397515803

Max Magnitude

5.5

ClinVar
Risk	rs397515803(-;-)
Alt	rs397515803(-;-)
Reference	Rs397515803(TGGCCAGTG;TGGCCAGTG)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48764825_48764833delCACTGGCCA
CLNSRC	ClinVar
CLNACC	RCV000035192.2,