rs397515779

Orientation

minus

Stabilized

minus

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

Make rs397515779(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48494240

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515779
dbSNP (classic)	rs397515779
ClinGen	rs397515779
ebi	rs397515779
HLI	rs397515779
Exac	rs397515779
Gnomad	rs397515779
Varsome	rs397515779
LitVar	rs397515779
Map	rs397515779
PheGenI	rs397515779
Biobank	rs397515779
1000 genomes	rs397515779
hgdp	rs397515779
ensembl	rs397515779
geneview	rs397515779
scholar	rs397515779
google	rs397515779
pharmgkb	rs397515779
gwascentral	rs397515779
openSNP	rs397515779
23andMe	rs397515779
SNPshot	rs397515779
SNPdbe	rs397515779
MSV3d	rs397515779
GWAS Ctlg	rs397515779

Max Magnitude

5.5

ClinVar
Risk	rs397515779(T;T)
Alt	rs397515779(T;T)
Reference	Rs397515779(-;-)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48786438dupA
CLNSRC	ClinVar
CLNACC	RCV000035149.2,