rs397515770

Orientation

minus

Stabilized

minus

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

Make rs397515770(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48495561

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515770
dbSNP (classic)	rs397515770
ClinGen	rs397515770
ebi	rs397515770
HLI	rs397515770
Exac	rs397515770
Gnomad	rs397515770
Varsome	rs397515770
LitVar	rs397515770
Map	rs397515770
PheGenI	rs397515770
Biobank	rs397515770
1000 genomes	rs397515770
hgdp	rs397515770
ensembl	rs397515770
geneview	rs397515770
scholar	rs397515770
google	rs397515770
pharmgkb	rs397515770
gwascentral	rs397515770
openSNP	rs397515770
23andMe	rs397515770
SNPshot	rs397515770
SNPdbe	rs397515770
MSV3d	rs397515770
GWAS Ctlg	rs397515770

Max Magnitude

5.5

ClinVar
Risk	rs397515770(C;C)
Alt	rs397515770(C;C)
Reference	Rs397515770(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48787758C>G
CLNSRC	ClinVar
CLNACC	RCV000035139.2,