rs363807

Orientation

minus

Stabilized

minus

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

Make rs363807(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48445430

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs363807
dbSNP (classic)	rs363807
ClinGen	rs363807
ebi	rs363807
HLI	rs363807
Exac	rs363807
Gnomad	rs363807
Varsome	rs363807
LitVar	rs363807
Map	rs363807
PheGenI	rs363807
Biobank	rs363807
1000 genomes	rs363807
hgdp	rs363807
ensembl	rs363807
geneview	rs363807
scholar	rs363807
google	rs363807
pharmgkb	rs363807
gwascentral	rs363807
openSNP	rs363807
23andMe	rs363807
SNPshot	rs363807
SNPdbe	rs363807
MSV3d	rs363807
GWAS Ctlg	rs363807

Max Magnitude

5.5

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs363807(T;T)
Alt	rs363807(T;T)
Reference	Rs363807(C;C)
Significance	Pathogenic
Disease	Marfan syndrome not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not provided
Reversed	1
HGVS	NC_000015.9:g.48737627G>A
CLNSRC	ClinVar
CLNACC	RCV000035235.2, RCV000181551.1,