rs387906547

Orientation

minus

Stabilized

minus

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

Make rs387906547(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48474652

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs387906547
dbSNP (classic)	rs387906547
ClinGen	rs387906547
ebi	rs387906547
HLI	rs387906547
Exac	rs387906547
Gnomad	rs387906547
Varsome	rs387906547
LitVar	rs387906547
Map	rs387906547
PheGenI	rs387906547
Biobank	rs387906547
1000 genomes	rs387906547
hgdp	rs387906547
ensembl	rs387906547
geneview	rs387906547
scholar	rs387906547
google	rs387906547
pharmgkb	rs387906547
gwascentral	rs387906547
openSNP	rs387906547
23andMe	rs387906547
SNPshot	rs387906547
SNPdbe	rs387906547
MSV3d	rs387906547
GWAS Ctlg	rs387906547

Max Magnitude

5.5

ClinVar
Risk	rs387906547(T;T)
Alt	rs387906547(T;T)
Reference	Rs387906547(A;A)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome, neonatal
Reversed	1
HGVS	NC_000015.9:g.48766849T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017903.27,