rs397515814

Orientation

minus

Stabilized

minus

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

Make rs397515814(A;A)

Make rs397515814(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48465573

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515814
dbSNP (classic)	rs397515814
ClinGen	rs397515814
ebi	rs397515814
HLI	rs397515814
Exac	rs397515814
Gnomad	rs397515814
Varsome	rs397515814
LitVar	rs397515814
Map	rs397515814
PheGenI	rs397515814
Biobank	rs397515814
1000 genomes	rs397515814
hgdp	rs397515814
ensembl	rs397515814
geneview	rs397515814
scholar	rs397515814
google	rs397515814
pharmgkb	rs397515814
gwascentral	rs397515814
openSNP	rs397515814
23andMe	rs397515814
SNPshot	rs397515814
SNPdbe	rs397515814
MSV3d	rs397515814
GWAS Ctlg	rs397515814

Max Magnitude

5.5

ClinVar
Risk	rs397515814(A;A)
Alt	rs397515814(A;A)
Reference	Rs397515814(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not provided
Reversed	1
HGVS	NC_000015.9:g.48757770C>T
CLNSRC	ClinVar
CLNACC	RCV000035213.2, RCV000483918.1,