rs397515861

Orientation

minus

Stabilized

minus

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

Make rs397515861(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48411339

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515861
dbSNP (classic)	rs397515861
ClinGen	rs397515861
ebi	rs397515861
HLI	rs397515861
Exac	rs397515861
Gnomad	rs397515861
Varsome	rs397515861
LitVar	rs397515861
Map	rs397515861
PheGenI	rs397515861
Biobank	rs397515861
1000 genomes	rs397515861
hgdp	rs397515861
ensembl	rs397515861
geneview	rs397515861
scholar	rs397515861
google	rs397515861
pharmgkb	rs397515861
gwascentral	rs397515861
openSNP	rs397515861
23andMe	rs397515861
SNPshot	rs397515861
SNPdbe	rs397515861
MSV3d	rs397515861
GWAS Ctlg	rs397515861

Max Magnitude

5.5

ClinVar
Risk	rs397515861(A;A)
Alt	rs397515861(A;A)
Reference	Rs397515861(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48703536C>T
CLNSRC	ClinVar
CLNACC	RCV000035287.2,