rs397515771

Orientation

minus

Stabilized

minus

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

Make rs397515771(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48495560

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515771
dbSNP (classic)	rs397515771
ClinGen	rs397515771
ebi	rs397515771
HLI	rs397515771
Exac	rs397515771
Gnomad	rs397515771
Varsome	rs397515771
LitVar	rs397515771
Map	rs397515771
PheGenI	rs397515771
Biobank	rs397515771
1000 genomes	rs397515771
hgdp	rs397515771
ensembl	rs397515771
geneview	rs397515771
scholar	rs397515771
google	rs397515771
pharmgkb	rs397515771
gwascentral	rs397515771
openSNP	rs397515771
23andMe	rs397515771
SNPshot	rs397515771
SNPdbe	rs397515771
MSV3d	rs397515771
GWAS Ctlg	rs397515771

Max Magnitude

5.5

ClinVar
Risk	rs397515771(G;G)
Alt	rs397515771(G;G)
Reference	Rs397515771(C;C)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48787757G>C
CLNSRC	ClinVar
CLNACC	RCV000035140.2,