rs387906548

Orientation

minus

Stabilized

minus

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

Make rs387906548(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48474527

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs387906548
dbSNP (classic)	rs387906548
ClinGen	rs387906548
ebi	rs387906548
HLI	rs387906548
Exac	rs387906548
Gnomad	rs387906548
Varsome	rs387906548
LitVar	rs387906548
Map	rs387906548
PheGenI	rs387906548
Biobank	rs387906548
1000 genomes	rs387906548
hgdp	rs387906548
ensembl	rs387906548
geneview	rs387906548
scholar	rs387906548
google	rs387906548
pharmgkb	rs387906548
gwascentral	rs387906548
openSNP	rs387906548
23andMe	rs387906548
SNPshot	rs387906548
SNPdbe	rs387906548
MSV3d	rs387906548
GWAS Ctlg	rs387906548

Max Magnitude

5.5

ClinVar
Risk	rs387906548(A;A)
Alt	rs387906548(A;A)
Reference	Rs387906548(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome, neonatal
Reversed	1
HGVS	NC_000015.9:g.48766724C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017904.27,