rs397515804

Orientation

minus

Stabilized

minus

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

Make rs397515804(A;A)

Make rs397515804(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48472628

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515804
dbSNP (classic)	rs397515804
ClinGen	rs397515804
ebi	rs397515804
HLI	rs397515804
Exac	rs397515804
Gnomad	rs397515804
Varsome	rs397515804
LitVar	rs397515804
Map	rs397515804
PheGenI	rs397515804
Biobank	rs397515804
1000 genomes	rs397515804
hgdp	rs397515804
ensembl	rs397515804
geneview	rs397515804
scholar	rs397515804
google	rs397515804
pharmgkb	rs397515804
gwascentral	rs397515804
openSNP	rs397515804
23andMe	rs397515804
SNPshot	rs397515804
SNPdbe	rs397515804
MSV3d	rs397515804
GWAS Ctlg	rs397515804

Max Magnitude

5.5

ClinVar
Risk	rs397515804(A;A) rs397515804(T;T)
Alt	rs397515804(A;A) rs397515804(T;T)
Reference	Rs397515804(G;G)
Significance	Probable-Pathogenic
Disease	not provided Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	not provided Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48764825C>A; NC_000015.9:g.48764825C>T
CLNSRC	ClinVar
CLNACC	RCV000489946.1, RCV000035193.2,