rs397515758

Orientation

minus

Stabilized

minus

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

Make rs397515758(-;-)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48513575

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515758
dbSNP (classic)	rs397515758
ClinGen	rs397515758
ebi	rs397515758
HLI	rs397515758
Exac	rs397515758
Gnomad	rs397515758
Varsome	rs397515758
LitVar	rs397515758
Map	rs397515758
PheGenI	rs397515758
Biobank	rs397515758
1000 genomes	rs397515758
hgdp	rs397515758
ensembl	rs397515758
geneview	rs397515758
scholar	rs397515758
google	rs397515758
pharmgkb	rs397515758
gwascentral	rs397515758
openSNP	rs397515758
23andMe	rs397515758
SNPshot	rs397515758
SNPdbe	rs397515758
MSV3d	rs397515758
GWAS Ctlg	rs397515758

Max Magnitude

5.5

ClinVar
Risk	rs397515758(-;-)
Alt	rs397515758(-;-)
Reference	Rs397515758(AG;AG)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48805772_48805773delCT
CLNSRC	ClinVar
CLNACC	RCV000035119.2,