rs397515826

Orientation

minus

Stabilized

minus

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

Make rs397515826(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48446773

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515826
dbSNP (classic)	rs397515826
ClinGen	rs397515826
ebi	rs397515826
HLI	rs397515826
Exac	rs397515826
Gnomad	rs397515826
Varsome	rs397515826
LitVar	rs397515826
Map	rs397515826
PheGenI	rs397515826
Biobank	rs397515826
1000 genomes	rs397515826
hgdp	rs397515826
ensembl	rs397515826
geneview	rs397515826
scholar	rs397515826
google	rs397515826
pharmgkb	rs397515826
gwascentral	rs397515826
openSNP	rs397515826
23andMe	rs397515826
SNPshot	rs397515826
SNPdbe	rs397515826
MSV3d	rs397515826
GWAS Ctlg	rs397515826

Max Magnitude

5.5

ClinVar
Risk	rs397515826(G;G)
Alt	rs397515826(G;G)
Reference	Rs397515826(C;C)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48738970G>C
CLNSRC	ClinVar
CLNACC	RCV000035232.2,