rs397515788

Orientation

minus

Stabilized

minus

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

Make rs397515788(-;-)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48488176

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515788
dbSNP (classic)	rs397515788
ClinGen	rs397515788
ebi	rs397515788
HLI	rs397515788
Exac	rs397515788
Gnomad	rs397515788
Varsome	rs397515788
LitVar	rs397515788
Map	rs397515788
PheGenI	rs397515788
Biobank	rs397515788
1000 genomes	rs397515788
hgdp	rs397515788
ensembl	rs397515788
geneview	rs397515788
scholar	rs397515788
google	rs397515788
pharmgkb	rs397515788
gwascentral	rs397515788
openSNP	rs397515788
23andMe	rs397515788
SNPshot	rs397515788
SNPdbe	rs397515788
MSV3d	rs397515788
GWAS Ctlg	rs397515788

Max Magnitude

5.5

ClinVar
Risk	rs397515788(-;-)
Alt	rs397515788(-;-)
Reference	Rs397515788(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48780373delC
CLNSRC	ClinVar
CLNACC	RCV000035165.2,