rs869025416

Orientation

minus

Stabilized

minus

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

Make rs869025416(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

15

Position

48420737

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs869025416
dbSNP (classic)	rs869025416
ClinGen	rs869025416
ebi	rs869025416
HLI	rs869025416
Exac	rs869025416
Gnomad	rs869025416
Varsome	rs869025416
LitVar	rs869025416
Map	rs869025416
PheGenI	rs869025416
Biobank	rs869025416
1000 genomes	rs869025416
hgdp	rs869025416
ensembl	rs869025416
geneview	rs869025416
scholar	rs869025416
google	rs869025416
pharmgkb	rs869025416
gwascentral	rs869025416
openSNP	rs869025416
23andMe	rs869025416
SNPshot	rs869025416
SNPdbe	rs869025416
MSV3d	rs869025416
GWAS Ctlg	rs869025416

Max Magnitude

5.5

ClinVar
Risk	rs869025416(A;A)
Alt	rs869025416(A;A)
Reference	Rs869025416(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48712934C>T
CLNSRC
CLNACC	RCV000208225.1,