rs397515762

Orientation

minus

Stabilized

minus

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

Make rs397515762(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48508581

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515762
dbSNP (classic)	rs397515762
ClinGen	rs397515762
ebi	rs397515762
HLI	rs397515762
Exac	rs397515762
Gnomad	rs397515762
Varsome	rs397515762
LitVar	rs397515762
Map	rs397515762
PheGenI	rs397515762
Biobank	rs397515762
1000 genomes	rs397515762
hgdp	rs397515762
ensembl	rs397515762
geneview	rs397515762
scholar	rs397515762
google	rs397515762
pharmgkb	rs397515762
gwascentral	rs397515762
openSNP	rs397515762
23andMe	rs397515762
SNPshot	rs397515762
SNPdbe	rs397515762
MSV3d	rs397515762
GWAS Ctlg	rs397515762

Max Magnitude

5.5

ClinVar
Risk	rs397515762(T;T)
Alt	rs397515762(T;T)
Reference	Rs397515762(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48800778C>A
CLNSRC	ClinVar
CLNACC	RCV000035126.2,