rs397515768

Orientation

minus

Stabilized

minus

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

Make rs397515768(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48496112

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515768
dbSNP (classic)	rs397515768
ClinGen	rs397515768
ebi	rs397515768
HLI	rs397515768
Exac	rs397515768
Gnomad	rs397515768
Varsome	rs397515768
LitVar	rs397515768
Map	rs397515768
PheGenI	rs397515768
Biobank	rs397515768
1000 genomes	rs397515768
hgdp	rs397515768
ensembl	rs397515768
geneview	rs397515768
scholar	rs397515768
google	rs397515768
pharmgkb	rs397515768
gwascentral	rs397515768
openSNP	rs397515768
23andMe	rs397515768
SNPshot	rs397515768
SNPdbe	rs397515768
MSV3d	rs397515768
GWAS Ctlg	rs397515768

Max Magnitude

5.5

ClinVar
Risk	rs397515768(T;T)
Alt	rs397515768(T;T)
Reference	Rs397515768(A;A)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48788309T>A
CLNSRC	ClinVar
CLNACC	RCV000035137.2,