rs397515774

Orientation

minus

Stabilized

minus

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

Make rs397515774(C;C)

Make rs397515774(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48495519

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515774
dbSNP (classic)	rs397515774
ClinGen	rs397515774
ebi	rs397515774
HLI	rs397515774
Exac	rs397515774
Gnomad	rs397515774
Varsome	rs397515774
LitVar	rs397515774
Map	rs397515774
PheGenI	rs397515774
Biobank	rs397515774
1000 genomes	rs397515774
hgdp	rs397515774
ensembl	rs397515774
geneview	rs397515774
scholar	rs397515774
google	rs397515774
pharmgkb	rs397515774
gwascentral	rs397515774
openSNP	rs397515774
23andMe	rs397515774
SNPshot	rs397515774
SNPdbe	rs397515774
MSV3d	rs397515774
GWAS Ctlg	rs397515774

Max Magnitude

5.5

ClinVar
Risk	rs397515774(C;C)
Alt	rs397515774(C;C)
Reference	Rs397515774(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48787716C>G
CLNSRC	ClinVar
CLNACC	RCV000035144.2,