rs397515833

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs397515833(A;A)

Make rs397515833(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48437321

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515833
dbSNP (classic)	rs397515833
ClinGen	rs397515833
ebi	rs397515833
HLI	rs397515833
Exac	rs397515833
Gnomad	rs397515833
Varsome	rs397515833
LitVar	rs397515833
Map	rs397515833
PheGenI	rs397515833
Biobank	rs397515833
1000 genomes	rs397515833
hgdp	rs397515833
ensembl	rs397515833
geneview	rs397515833
scholar	rs397515833
google	rs397515833
pharmgkb	rs397515833
gwascentral	rs397515833
openSNP	rs397515833
23andMe	rs397515833
SNPshot	rs397515833
SNPdbe	rs397515833
MSV3d	rs397515833
GWAS Ctlg	rs397515833

Max Magnitude

0

ClinVar
Risk	rs397515833(A;A)
Alt	rs397515833(A;A)
Reference	Rs397515833(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48729518C>T
CLNSRC	ClinVar
CLNACC	RCV000035242.2,