rs397515834

Orientation

minus

Stabilized

minus

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

Make rs397515834(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48434694

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515834
dbSNP (classic)	rs397515834
ClinGen	rs397515834
ebi	rs397515834
HLI	rs397515834
Exac	rs397515834
Gnomad	rs397515834
Varsome	rs397515834
LitVar	rs397515834
Map	rs397515834
PheGenI	rs397515834
Biobank	rs397515834
1000 genomes	rs397515834
hgdp	rs397515834
ensembl	rs397515834
geneview	rs397515834
scholar	rs397515834
google	rs397515834
pharmgkb	rs397515834
gwascentral	rs397515834
openSNP	rs397515834
23andMe	rs397515834
SNPshot	rs397515834
SNPdbe	rs397515834
MSV3d	rs397515834
GWAS Ctlg	rs397515834

Max Magnitude

5.5

ClinVar
Risk	rs397515834(G;G)
Alt	rs397515834(G;G)
Reference	Rs397515834(TT;TT)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48726891_48726892delAAinsC
CLNSRC	ClinVar
CLNACC	RCV000035245.2,