rs397515773

Orientation

minus

Stabilized

minus

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

Make rs397515773(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48495520

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515773
dbSNP (classic)	rs397515773
ClinGen	rs397515773
ebi	rs397515773
HLI	rs397515773
Exac	rs397515773
Gnomad	rs397515773
Varsome	rs397515773
LitVar	rs397515773
Map	rs397515773
PheGenI	rs397515773
Biobank	rs397515773
1000 genomes	rs397515773
hgdp	rs397515773
ensembl	rs397515773
geneview	rs397515773
scholar	rs397515773
google	rs397515773
pharmgkb	rs397515773
gwascentral	rs397515773
openSNP	rs397515773
23andMe	rs397515773
SNPshot	rs397515773
SNPdbe	rs397515773
MSV3d	rs397515773
GWAS Ctlg	rs397515773

Max Magnitude

5.5

ClinVar
Risk	rs397515773(G;G)
Alt	rs397515773(G;G)
Reference	Rs397515773(T;T)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48787717A>C
CLNSRC	ClinVar
CLNACC	RCV000035143.2,