rs397515859

Orientation

minus

Stabilized

minus

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

Make rs397515859(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48415632

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515859
dbSNP (classic)	rs397515859
ClinGen	rs397515859
ebi	rs397515859
HLI	rs397515859
Exac	rs397515859
Gnomad	rs397515859
Varsome	rs397515859
LitVar	rs397515859
Map	rs397515859
PheGenI	rs397515859
Biobank	rs397515859
1000 genomes	rs397515859
hgdp	rs397515859
ensembl	rs397515859
geneview	rs397515859
scholar	rs397515859
google	rs397515859
pharmgkb	rs397515859
gwascentral	rs397515859
openSNP	rs397515859
23andMe	rs397515859
SNPshot	rs397515859
SNPdbe	rs397515859
MSV3d	rs397515859
GWAS Ctlg	rs397515859

Max Magnitude

5.5

ClinVar
Risk	rs397515859(A;A)
Alt	rs397515859(A;A)
Reference	Rs397515859(G;G)
Significance	Pathogenic
Disease	Marfan syndrome not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not provided
Reversed	1
HGVS	NC_000015.9:g.48707829C>T
CLNSRC	ClinVar
CLNACC	RCV000035283.2, RCV000181621.2,