rs397515865

Orientation

minus

Stabilized

minus

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

Make rs397515865(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48411006

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515865
dbSNP (classic)	rs397515865
ClinGen	rs397515865
ebi	rs397515865
HLI	rs397515865
Exac	rs397515865
Gnomad	rs397515865
Varsome	rs397515865
LitVar	rs397515865
Map	rs397515865
PheGenI	rs397515865
Biobank	rs397515865
1000 genomes	rs397515865
hgdp	rs397515865
ensembl	rs397515865
geneview	rs397515865
scholar	rs397515865
google	rs397515865
pharmgkb	rs397515865
gwascentral	rs397515865
openSNP	rs397515865
23andMe	rs397515865
SNPshot	rs397515865
SNPdbe	rs397515865
MSV3d	rs397515865
GWAS Ctlg	rs397515865

Max Magnitude

5.5

ClinVar
Risk	rs397515865(C;C)
Alt	rs397515865(C;C)
Reference	Rs397515865(A;A)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48703203T>G
CLNSRC	ClinVar
CLNACC	RCV000035292.2,