rs397515792

Orientation

minus

Stabilized

minus

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

Make rs397515792(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48487311

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515792
dbSNP (classic)	rs397515792
ClinGen	rs397515792
ebi	rs397515792
HLI	rs397515792
Exac	rs397515792
Gnomad	rs397515792
Varsome	rs397515792
LitVar	rs397515792
Map	rs397515792
PheGenI	rs397515792
Biobank	rs397515792
1000 genomes	rs397515792
hgdp	rs397515792
ensembl	rs397515792
geneview	rs397515792
scholar	rs397515792
google	rs397515792
pharmgkb	rs397515792
gwascentral	rs397515792
openSNP	rs397515792
23andMe	rs397515792
SNPshot	rs397515792
SNPdbe	rs397515792
MSV3d	rs397515792
GWAS Ctlg	rs397515792

Max Magnitude

5.5

ClinVar
Risk	rs397515792(T;T)
Alt	rs397515792(T;T)
Reference	Rs397515792(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48779508C>A
CLNSRC	ClinVar
CLNACC	RCV000035173.2,