rs397515851

Orientation

minus

Stabilized

minus

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

Make rs397515851(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48425368

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515851
dbSNP (classic)	rs397515851
ClinGen	rs397515851
ebi	rs397515851
HLI	rs397515851
Exac	rs397515851
Gnomad	rs397515851
Varsome	rs397515851
LitVar	rs397515851
Map	rs397515851
PheGenI	rs397515851
Biobank	rs397515851
1000 genomes	rs397515851
hgdp	rs397515851
ensembl	rs397515851
geneview	rs397515851
scholar	rs397515851
google	rs397515851
pharmgkb	rs397515851
gwascentral	rs397515851
openSNP	rs397515851
23andMe	rs397515851
SNPshot	rs397515851
SNPdbe	rs397515851
MSV3d	rs397515851
GWAS Ctlg	rs397515851

Max Magnitude

5.5

ClinVar
Risk	rs397515851(T;T)
Alt	rs397515851(T;T)
Reference	Rs397515851(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48717565C>A
CLNSRC	ClinVar
CLNACC	RCV000035271.2,