rs397515811

Orientation

minus

Stabilized

minus

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

Make rs397515811(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48468463

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515811
dbSNP (classic)	rs397515811
ClinGen	rs397515811
ebi	rs397515811
HLI	rs397515811
Exac	rs397515811
Gnomad	rs397515811
Varsome	rs397515811
LitVar	rs397515811
Map	rs397515811
PheGenI	rs397515811
Biobank	rs397515811
1000 genomes	rs397515811
hgdp	rs397515811
ensembl	rs397515811
geneview	rs397515811
scholar	rs397515811
google	rs397515811
pharmgkb	rs397515811
gwascentral	rs397515811
openSNP	rs397515811
23andMe	rs397515811
SNPshot	rs397515811
SNPdbe	rs397515811
MSV3d	rs397515811
GWAS Ctlg	rs397515811

Max Magnitude

5.5

ClinVar
Risk	rs397515811(C;C)
Alt	rs397515811(C;C)
Reference	Rs397515811(T;T)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48760660A>G
CLNSRC	ClinVar
CLNACC	RCV000035204.2,