rs730880356

Orientation

minus

Stabilized

minus

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

Make rs730880356(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

48515519

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs730880356
dbSNP (classic)	rs730880356
ClinGen	rs730880356
ebi	rs730880356
HLI	rs730880356
Exac	rs730880356
Gnomad	rs730880356
Varsome	rs730880356
LitVar	rs730880356
Map	rs730880356
PheGenI	rs730880356
Biobank	rs730880356
1000 genomes	rs730880356
hgdp	rs730880356
ensembl	rs730880356
geneview	rs730880356
scholar	rs730880356
google	rs730880356
pharmgkb	rs730880356
gwascentral	rs730880356
openSNP	rs730880356
23andMe	rs730880356
SNPshot	rs730880356
SNPdbe	rs730880356
MSV3d	rs730880356
GWAS Ctlg	rs730880356

Max Magnitude

5.5

ClinVar
Risk	rs730880356(G;G)
Alt	rs730880356(G;G)
Reference	Rs730880356(-;-)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48807717dupC
CLNSRC
CLNACC	RCV000156089.1,