rs397515796

Orientation

minus

Stabilized

minus

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

Make rs397515796(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48481771

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515796
dbSNP (classic)	rs397515796
ClinGen	rs397515796
ebi	rs397515796
HLI	rs397515796
Exac	rs397515796
Gnomad	rs397515796
Varsome	rs397515796
LitVar	rs397515796
Map	rs397515796
PheGenI	rs397515796
Biobank	rs397515796
1000 genomes	rs397515796
hgdp	rs397515796
ensembl	rs397515796
geneview	rs397515796
scholar	rs397515796
google	rs397515796
pharmgkb	rs397515796
gwascentral	rs397515796
openSNP	rs397515796
23andMe	rs397515796
SNPshot	rs397515796
SNPdbe	rs397515796
MSV3d	rs397515796
GWAS Ctlg	rs397515796

Max Magnitude

5.5

ClinVar
Risk	rs397515796(C;C)
Alt	rs397515796(C;C)
Reference	Rs397515796(A;A)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48773968T>G
CLNSRC	ClinVar
CLNACC	RCV000035181.2,